Canonical Allele Identifier: CA8871284

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2743843G>A , CM000680.2:g.2743843G>A	GRCh38
NC_000018.9:g.2743841G>A , CM000680.1:g.2743841G>A	GRCh37
NC_000018.8:g.2733841G>A	NCBI36
NG_031972.1:g.92956G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015295.3:c.3716G>A MANE Select	NP_056110.2:p.Arg1239His
ENST00000320876.11:c.3716G>A MANE Select	ENSP00000326603.7:p.Arg1239His
NM_015295.2:c.3716G>A	NP_056110.2:p.Arg1239His
ENST00000320876.10:c.3716G>A	ENSP00000326603.6:p.Arg1239His
ENST00000577880.5:c.2129G>A	ENSP00000463049.1:p.Arg710His
ENST00000583441.2:n.1402G>A
ENST00000584897.5:c.1536G>A
ENST00000686763.1:c.521G>A	ENSP00000510263.1:p.Arg174His
ENST00000686864.1:c.478G>A
ENST00000688342.1:c.3716G>A	ENSP00000508422.1:p.Arg1239His
ENST00000688708.1:n.2372G>A
ENST00000690757.1:n.1173G>A
ENST00000693213.1:n.2994G>A
XM_011525642.1:c.3716G>A	XP_011523944.1:p.Arg1239His
XM_011525643.1:c.3716G>A	XP_011523945.1:p.Arg1239His
XM_011525643.2:c.3716G>A	XP_011523945.1:p.Arg1239His
XM_011525644.1:c.3332G>A	XP_011523946.1:p.Arg1111His
XM_011525645.1:c.3152G>A	XP_011523947.1:p.Arg1051His
XM_011525646.1:c.3716G>A	XP_011523948.1:p.Arg1239His
XM_011525647.1:c.3716G>A	XP_011523949.1:p.Arg1239His
XM_017025684.1:c.3152G>A	XP_016881173.1:p.Arg1051His
XR_001753172.1:n.3905G>A
XR_001753173.1:n.3905G>A
XR_001753174.1:n.3905G>A
XR_001753175.1:n.3905G>A
XR_001753176.1:n.3905G>A
XR_001753177.1:n.3905G>A
XR_001753178.1:n.3905G>A
XR_001753179.1:n.3905G>A
XR_430039.1:n.3905G>A
XR_935054.1:n.3905G>A
XR_935055.1:n.3905G>A
XR_935055.2:n.3905G>A