Canonical Allele Identifier: CA2280679814

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2694643A= , CM000680.2:g.2694643A=	GRCh38
NC_000018.9:g.2694641A= , CM000680.1:g.2694641A=	GRCh37
NC_000018.8:g.2684641A=	NCBI36
NG_031972.1:g.43756A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1147A=
ENST00000688342.1:c.990A=	ENSP00000508422.1:p.Glu330=
ENST00000693213.1:n.268A=
ENST00000320876.11:c.990A= MANE Select	ENSP00000326603.7:p.Glu330=
ENST00000320876.10:c.990A=	ENSP00000326603.6:p.Glu330=
ENST00000581226.1:n.224A=
NM_015295.2:c.990A=	NP_056110.2:p.Glu330=
XM_011525642.1:c.990A=	XP_011523944.1:p.Glu330=
XM_011525643.1:c.990A=	XP_011523945.1:p.Glu330=
XM_011525644.1:c.606A=	XP_011523946.1:p.Glu202=
XM_011525645.1:c.426A=	XP_011523947.1:p.Glu142=
XM_011525646.1:c.990A=	XP_011523948.1:p.Glu330=
XM_011525647.1:c.990A=	XP_011523949.1:p.Glu330=
XR_430039.1:n.1179A=
XR_935054.1:n.1179A=
XR_935055.1:n.1179A=
XM_011525643.2:c.990A=	XP_011523945.1:p.Glu330=
XM_017025684.1:c.426A=	XP_016881173.1:p.Glu142=
XR_001753172.1:n.1179A=
XR_001753173.1:n.1179A=
XR_001753174.1:n.1179A=
XR_001753175.1:n.1179A=
XR_001753176.1:n.1179A=
XR_001753177.1:n.1179A=
XR_001753178.1:n.1179A=
XR_001753179.1:n.1179A=
XR_935055.2:n.1179A=
NM_015295.3:c.990A= MANE Select	NP_056110.2:p.Glu330=