Canonical Allele Identifier: CA2280661010

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2656126G= , CM000680.2:g.2656126G=	GRCh38
NC_000018.9:g.2656125G= , CM000680.1:g.2656125G=	GRCh37
NC_000018.8:g.2646125G=	NCBI36
NG_031972.1:g.5240G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.208G=
ENST00000688342.1:c.51G=	ENSP00000508422.1:p.Glu17=
ENST00000320876.11:c.51G= MANE Select	ENSP00000326603.7:p.Glu17=
ENST00000320876.10:c.51G=	ENSP00000326603.6:p.Glu17=
NM_015295.2:c.51G=	NP_056110.2:p.Glu17=
XM_011525642.1:c.51G=	XP_011523944.1:p.Glu17=
XM_011525643.1:c.51G=	XP_011523945.1:p.Glu17=
XM_011525646.1:c.51G=	XP_011523948.1:p.Glu17=
XM_011525647.1:c.51G=	XP_011523949.1:p.Glu17=
XR_430039.1:n.240G=
XR_935054.1:n.240G=
XR_935055.1:n.240G=
XM_011525643.2:c.51G=	XP_011523945.1:p.Glu17=
XM_017025684.1:c.-692G=	XP_016881173.1:n.-692G=
XR_001753172.1:n.240G=
XR_001753173.1:n.240G=
XR_001753174.1:n.240G=
XR_001753175.1:n.240G=
XR_001753176.1:n.240G=
XR_001753177.1:n.240G=
XR_001753178.1:n.240G=
XR_001753179.1:n.240G=
XR_935055.2:n.240G=
NM_015295.3:c.51G= MANE Select	NP_056110.2:p.Glu17=