Canonical Allele Identifier: CA1140248689

Gene: SCMH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.41223266C= , CM000663.2:g.41223266C=	GRCh38
NC_000001.10:g.41688938C= , CM000663.1:g.41688938C=	GRCh37
NC_000001.9:g.41461525C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695335.1:c.-118+18793G= MANE Select	ENSP00000511813.1:n.-118+18793G=
ENST00000337495.9:c.-118+18793G=	ENSP00000337352.5:n.-118+18793G=
ENST00000372596.5:c.-540+18793G=	ENSP00000361677.1:n.-540+18793G=
ENST00000372597.5:c.-427+18793G=	ENSP00000361678.1:n.-427+18793G=
ENST00000488592.1:n.96+18793G=
NM_001172218.1:c.-540+18793G=	NP_001165689.1:n.-540+18793G=
NM_001172219.1:c.-118+18793G=	NP_001165690.1:n.-118+18793G=
NM_001172220.1:c.-260+18793G=	NP_001165691.1:n.-260+18793G=
NM_012236.3:c.-427+18793G=	NP_036368.1:n.-427+18793G=
XM_006710462.2:c.-118+18793G=	XP_006710525.1:n.-118+18793G=
XM_006710469.2:c.-118+18793G=	XP_006710532.1:n.-118+18793G=
XM_006710470.2:c.-118+18793G=	XP_006710533.1:n.-118+18793G=
XM_011541033.1:c.-492+18793G=	XP_011539335.1:n.-492+18793G=
XM_011541034.1:c.-118+18793G=	XP_011539336.1:n.-118+18793G=
XM_011541035.1:c.-427+18793G=	XP_011539337.1:n.-427+18793G=
XM_011541036.1:c.-532+18793G=	XP_011539338.1:n.-532+18793G=
XM_011541037.1:c.-461+18793G=	XP_011539339.1:n.-461+18793G=
XM_011541038.1:c.-118+18793G=	XP_011539340.1:n.-118+18793G=
XM_011541039.1:c.-118+18793G=	XP_011539341.1:n.-118+18793G=
XM_011541040.1:c.-118+18793G=	XP_011539342.1:n.-118+18793G=
XM_011541041.1:c.-118+18793G=	XP_011539343.1:n.-118+18793G=
XM_011541042.1:c.-118+18793G=	XP_011539344.1:n.-118+18793G=
XM_011541043.1:c.-1093+18793G=	XP_011539345.1:n.-1093+18793G=
XR_426594.2:n.85+18793G=
XR_426595.2:n.85+18793G=
XR_946584.1:n.85+18793G=
XR_946585.1:n.85+18793G=
XR_946587.1:n.85+18793G=
NM_001350667.1:c.-634+18793G=	NP_001337596.1:n.-634+18793G=
XM_011541033.2:c.-492+18793G=	XP_011539335.1:n.-492+18793G=
XM_011541035.2:c.-427+18793G=	XP_011539337.1:n.-427+18793G=
XM_011541036.2:c.-532+18793G=	XP_011539338.1:n.-532+18793G=
XM_011541040.2:c.-118+18793G=	XP_011539342.1:n.-118+18793G=
XM_011541043.2:c.-1093+18793G=	XP_011539345.1:n.-1093+18793G=
XM_017000699.1:c.-260+18793G=	XP_016856188.1:n.-260+18793G=
XM_017000700.1:c.-427+18793G=	XP_016856189.1:n.-427+18793G=
XM_017000702.1:c.-425+18793G=	XP_016856191.1:n.-425+18793G=
XM_017000703.1:c.-563+18793G=	XP_016856192.1:n.-563+18793G=
XM_017000712.1:c.-260+18793G=	XP_016856201.1:n.-260+18793G=
XM_017000713.2:c.-354+18793G=	XP_016856202.1:n.-354+18793G=
XM_024454204.1:c.-425+18793G=	XP_024309972.1:n.-425+18793G=
XM_024454206.1:c.-764+18793G=	XP_024309974.1:n.-764+18793G=
XR_001737045.1:n.85+18793G=
XR_001737046.1:n.85+18793G=
XR_001737051.1:n.85+18793G=
XR_001737053.1:n.95+18793G=
XR_002959757.1:n.85+18793G=
XR_002959760.1:n.85+18793G=
XR_002959761.1:n.85+18793G=
XR_002959762.1:n.85+18793G=
XR_002959763.1:n.85+18793G=
XR_946584.2:n.85+18793G=
NM_001172218.2:c.-540+18793G=	NP_001165689.1:n.-540+18793G=
NM_001172219.2:c.-118+18793G=	NP_001165690.1:n.-118+18793G=
NM_001172220.2:c.-260+18793G=	NP_001165691.1:n.-260+18793G=
NM_001350667.2:c.-634+18793G=	NP_001337596.1:n.-634+18793G=
NM_012236.4:c.-427+18793G=	NP_036368.1:n.-427+18793G=
NM_001031694.3:c.-500+18793G=	NP_001026864.1:n.-500+18793G=
NM_001172221.3:c.-532+18793G=	NP_001165692.1:n.-532+18793G=
NM_001172222.3:c.-297+18793G=	NP_001165693.1:n.-297+18793G=
NM_001350668.2:c.-835+18793G=	NP_001337597.1:n.-835+18793G=
NM_001394299.1:c.-701+18793G=	NP_001381228.1:n.-701+18793G=
NM_001394300.1:c.-701+18793G=	NP_001381229.1:n.-701+18793G=
NM_001394301.1:c.-571+18793G=	NP_001381230.1:n.-571+18793G=
NM_001394302.1:c.-577+18793G=	NP_001381231.1:n.-577+18793G=
NM_001394303.1:c.-540+18793G=	NP_001381232.1:n.-540+18793G=
NM_001394304.1:c.-291+18793G=	NP_001381233.1:n.-291+18793G=
NM_001394305.1:c.-577+18793G=	NP_001381234.1:n.-577+18793G=
NM_001394306.1:c.-500+18793G=	NP_001381235.1:n.-500+18793G=
NM_001394307.1:c.-427+18793G=	NP_001381236.1:n.-427+18793G=
NM_001394308.1:c.-118+18793G=	NP_001381237.1:n.-118+18793G=
NM_001394309.1:c.-901+18793G=	NP_001381238.1:n.-901+18793G=
NM_001394311.1:c.-118+18793G= MANE Select	NP_001381240.1:n.-118+18793G=
NR_135092.2:n.248+18793G=