Canonical Allele Identifier: CA2280681275

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2697890C= , CM000680.2:g.2697890C=	GRCh38
NC_000018.9:g.2697888C= , CM000680.1:g.2697888C=	GRCh37
NC_000018.8:g.2687888C=	NCBI36
NG_031972.1:g.47003C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1348C=
ENST00000688342.1:c.1191C=	ENSP00000508422.1:p.Asp397=
ENST00000693213.1:n.469C=
ENST00000320876.11:c.1191C= MANE Select	ENSP00000326603.7:p.Asp397=
ENST00000320876.10:c.1191C=	ENSP00000326603.6:p.Asp397=
NM_015295.2:c.1191C=	NP_056110.2:p.Asp397=
XM_011525642.1:c.1191C=	XP_011523944.1:p.Asp397=
XM_011525643.1:c.1191C=	XP_011523945.1:p.Asp397=
XM_011525644.1:c.807C=	XP_011523946.1:p.Asp269=
XM_011525645.1:c.627C=	XP_011523947.1:p.Asp209=
XM_011525646.1:c.1191C=	XP_011523948.1:p.Asp397=
XM_011525647.1:c.1191C=	XP_011523949.1:p.Asp397=
XR_430039.1:n.1380C=
XR_935054.1:n.1380C=
XR_935055.1:n.1380C=
XM_011525643.2:c.1191C=	XP_011523945.1:p.Asp397=
XM_017025684.1:c.627C=	XP_016881173.1:p.Asp209=
XR_001753172.1:n.1380C=
XR_001753173.1:n.1380C=
XR_001753174.1:n.1380C=
XR_001753175.1:n.1380C=
XR_001753176.1:n.1380C=
XR_001753177.1:n.1380C=
XR_001753178.1:n.1380C=
XR_001753179.1:n.1380C=
XR_935055.2:n.1380C=
NM_015295.3:c.1191C= MANE Select	NP_056110.2:p.Asp397=