Canonical Allele Identifier: CA796582

Gene: SCMH1

Linked Data

• dbSNP Id: rs767761955
• ExAC: 1:41618254 C / A
• gnomAD v2: 1-41618254-C-A
• MyVariant Identifiers: chr1:g.41618254C>A (hg19) ; chr1:g.41152582C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.41152582C>A , CM000663.2:g.41152582C>A	GRCh38
NC_000001.10:g.41618254C>A , CM000663.1:g.41618254C>A	GRCh37
NC_000001.9:g.41390841C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000695335.1:c.107-898G>T MANE Select	ENSP00000511813.1:n.107-898G>T
ENST00000695336.1:c.107-898G>T	ENSP00000511814.1:n.107-898G>T
ENST00000695337.1:c.76+17G>T	ENSP00000511815.1:n.76+17G>T
ENST00000326197.11:c.76+17G>T	ENSP00000318094.7:n.76+17G>T
ENST00000337495.9:c.107-898G>T	ENSP00000337352.5:n.107-898G>T
ENST00000361191.9:c.-37+8293G>T	ENSP00000354656.5:n.-37+8293G>T
ENST00000361705.7:c.6+7143G>T	ENSP00000354996.3:n.6+7143G>T
ENST00000372595.5:c.-107-898G>T	ENSP00000361676.1:n.-107-898G>T
ENST00000372596.5:c.-107-898G>T	ENSP00000361677.1:n.-107-898G>T
ENST00000372597.5:c.6+7143G>T	ENSP00000361678.1:n.6+7143G>T
ENST00000397171.6:c.-107-898G>T	ENSP00000380356.2:n.-107-898G>T
ENST00000397174.6:c.76+17G>T	ENSP00000380359.3:n.76+17G>T
ENST00000402904.6:c.-107-898G>T	ENSP00000386079.3:n.-107-898G>T
ENST00000456518.3:c.6+7143G>T	ENSP00000403974.2:n.6+7143G>T
NM_001031694.2:c.76+17G>T	NP_001026864.1:n.76+17G>T
NM_001172218.1:c.-107-898G>T	NP_001165689.1:n.-107-898G>T
NM_001172219.1:c.107-898G>T	NP_001165690.1:n.107-898G>T
NM_001172220.1:c.-37+8293G>T	NP_001165691.1:n.-37+8293G>T
NM_001172221.1:c.-107-898G>T	NP_001165692.1:n.-107-898G>T
NM_001172222.1:c.6+7143G>T	NP_001165693.1:n.6+7143G>T
NM_012236.3:c.6+7143G>T	NP_036368.1:n.6+7143G>T
XM_006710462.2:c.107-898G>T	XP_006710525.1:n.107-898G>T
XM_006710464.1:c.-107-898G>T	XP_006710527.1:n.-107-898G>T
XM_006710469.2:c.107-898G>T	XP_006710532.1:n.107-898G>T
XM_006710470.2:c.107-898G>T	XP_006710533.1:n.107-898G>T
XM_011541032.1:c.107-898G>T	XP_011539334.1:n.107-898G>T
XM_011541033.1:c.76+17G>T	XP_011539335.1:n.76+17G>T
XM_011541034.1:c.107-898G>T	XP_011539336.1:n.107-898G>T
XM_011541035.1:c.6+7143G>T	XP_011539337.1:n.6+7143G>T
XM_011541036.1:c.-107-898G>T	XP_011539338.1:n.-107-898G>T
XM_011541037.1:c.-37+8293G>T	XP_011539339.1:n.-37+8293G>T
XM_011541038.1:c.107-898G>T	XP_011539340.1:n.107-898G>T
XM_011541039.1:c.107-898G>T	XP_011539341.1:n.107-898G>T
XM_011541040.1:c.107-898G>T	XP_011539342.1:n.107-898G>T
XM_011541041.1:c.107-898G>T	XP_011539343.1:n.107-898G>T
XM_011541042.1:c.107-898G>T	XP_011539344.1:n.107-898G>T
XM_011541043.1:c.-459-898G>T	XP_011539345.1:n.-459-898G>T
XR_426594.2:n.309-898G>T
XR_426595.2:n.309-898G>T
XR_946584.1:n.309-898G>T
XR_946585.1:n.309-898G>T
XR_946586.1:n.287+17G>T
XR_946587.1:n.309-898G>T
NM_001172222.2:c.6+7143G>T	NP_001165693.1:n.6+7143G>T
NM_001350667.1:c.-201-898G>T	NP_001337596.1:n.-201-898G>T
NM_001350668.1:c.-455-898G>T	NP_001337597.1:n.-455-898G>T
NR_135092.1:n.445+17G>T
XM_011541032.2:c.107-898G>T	XP_011539334.1:n.107-898G>T
XM_011541033.2:c.76+17G>T	XP_011539335.1:n.76+17G>T
XM_011541035.2:c.6+7143G>T	XP_011539337.1:n.6+7143G>T
XM_011541036.2:c.-107-898G>T	XP_011539338.1:n.-107-898G>T
XM_011541040.2:c.107-898G>T	XP_011539342.1:n.107-898G>T
XM_011541043.2:c.-459-898G>T	XP_011539345.1:n.-459-898G>T
XM_017000698.1:c.16+17G>T	XP_016856187.1:n.16+17G>T
XM_017000699.1:c.-37+8293G>T	XP_016856188.1:n.-37+8293G>T
XM_017000700.1:c.6+7143G>T	XP_016856189.1:n.6+7143G>T
XM_017000702.1:c.-201-898G>T	XP_016856191.1:n.-201-898G>T
XM_017000703.1:c.-131+7143G>T	XP_016856192.1:n.-131+7143G>T
XM_017000708.1:c.-107-898G>T	XP_016856197.1:n.-107-898G>T
XM_017000711.1:c.-107-898G>T	XP_016856200.1:n.-107-898G>T
XM_017000712.1:c.-37+8293G>T	XP_016856201.1:n.-37+8293G>T
XM_017000713.2:c.-131+8293G>T	XP_016856202.1:n.-131+8293G>T
XM_024454203.1:c.-202+17G>T	XP_024309971.1:n.-202+17G>T
XM_024454204.1:c.-201-898G>T	XP_024309972.1:n.-201-898G>T
XM_024454206.1:c.-131+7143G>T	XP_024309974.1:n.-131+7143G>T
XR_001737045.1:n.309-898G>T
XR_001737046.1:n.309-898G>T
XR_001737051.1:n.309-898G>T
XR_001737052.1:n.258-898G>T
XR_001737053.1:n.527+7143G>T
XR_001737054.1:n.258-898G>T
XR_002959757.1:n.309-898G>T
XR_002959760.1:n.309-898G>T
XR_002959761.1:n.309-898G>T
XR_002959762.1:n.309-898G>T
XR_002959763.1:n.309-898G>T
XR_946584.2:n.309-898G>T
NM_001172218.2:c.-107-898G>T	NP_001165689.1:n.-107-898G>T
NM_001172219.2:c.107-898G>T	NP_001165690.1:n.107-898G>T
NM_001172220.2:c.-37+8293G>T	NP_001165691.1:n.-37+8293G>T
NM_001350667.2:c.-201-898G>T	NP_001337596.1:n.-201-898G>T
NM_012236.4:c.6+7143G>T	NP_036368.1:n.6+7143G>T
NM_001031694.3:c.76+17G>T	NP_001026864.1:n.76+17G>T
NM_001172221.3:c.-107-898G>T	NP_001165692.1:n.-107-898G>T
NM_001172222.3:c.6+7143G>T	NP_001165693.1:n.6+7143G>T
NM_001350668.2:c.-455-898G>T	NP_001337597.1:n.-455-898G>T
NM_001394299.1:c.76+17G>T	NP_001381228.1:n.76+17G>T
NM_001394300.1:c.76+17G>T	NP_001381229.1:n.76+17G>T
NM_001394301.1:c.76+17G>T	NP_001381230.1:n.76+17G>T
NM_001394302.1:c.76+17G>T	NP_001381231.1:n.76+17G>T
NM_001394303.1:c.-107-898G>T	NP_001381232.1:n.-107-898G>T
NM_001394304.1:c.76+17G>T	NP_001381233.1:n.76+17G>T
NM_001394305.1:c.76+17G>T	NP_001381234.1:n.76+17G>T
NM_001394306.1:c.76+17G>T	NP_001381235.1:n.76+17G>T
NM_001394307.1:c.6+7143G>T	NP_001381236.1:n.6+7143G>T
NM_001394308.1:c.107-898G>T	NP_001381237.1:n.107-898G>T
NM_001394309.1:c.-456+17G>T	NP_001381238.1:n.-456+17G>T
NM_001394311.1:c.107-898G>T MANE Select	NP_001381240.1:n.107-898G>T
NR_135092.2:n.823+17G>T