Canonical Allele Identifier: CA8871795

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2796030G>A , CM000680.2:g.2796030G>A	GRCh38
NC_000018.9:g.2796028G>A , CM000680.1:g.2796028G>A	GRCh37
NC_000018.8:g.2786028G>A	NCBI36
NG_031972.1:g.145143G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015295.3:c.5801G>A MANE Select	NP_056110.2:p.Arg1934His
ENST00000320876.11:c.5801G>A MANE Select	ENSP00000326603.7:p.Arg1934His
NM_015295.2:c.5801G>A	NP_056110.2:p.Arg1934His
ENST00000320876.10:c.5801G>A	ENSP00000326603.6:p.Arg1934His
ENST00000577880.5:c.4357G>A	ENSP00000463049.1:n.4357G>A
ENST00000584897.5:c.3550G>A
ENST00000642953.1:c.703G>A
ENST00000645355.1:c.1846G>A
ENST00000685656.1:n.2108G>A
ENST00000686763.1:c.*1360G>A	ENSP00000510263.1:n.*1360G>A
ENST00000686864.1:c.2492G>A
ENST00000688342.1:c.5669G>A	ENSP00000508422.1:p.Arg1890His
ENST00000688708.1:n.4530G>A
ENST00000688964.1:n.2310G>A
ENST00000689034.1:n.3748G>A
ENST00000689800.1:n.1918G>A
XM_011525642.1:c.5801G>A	XP_011523944.1:p.Arg1934His
XM_011525643.1:c.5801G>A	XP_011523945.1:p.Arg1934His
XM_011525643.2:c.5801G>A	XP_011523945.1:p.Arg1934His
XM_011525644.1:c.5417G>A	XP_011523946.1:p.Arg1806His
XM_011525645.1:c.5237G>A	XP_011523947.1:p.Arg1746His
XM_017025684.1:c.5237G>A	XP_016881173.1:p.Arg1746His
XR_001753172.1:n.5990G>A
XR_001753173.1:n.5990G>A
XR_001753174.1:n.5919G>A
XR_001753175.1:n.5919G>A
XR_001753176.1:n.5799G>A
XR_001753177.1:n.5902G>A
XR_001753178.1:n.5839G>A
XR_430039.1:n.5919G>A
XR_935054.1:n.5799G>A