Canonical Allele Identifier: CA8870778

Gene: SMCHD1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2703733G>A , CM000680.2:g.2703733G>A	GRCh38
NC_000018.9:g.2703731G>A , CM000680.1:g.2703731G>A	GRCh37
NC_000018.8:g.2693731G>A	NCBI36
NG_031972.1:g.52846G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1846G>A
ENST00000688342.1:c.1689G>A	ENSP00000508422.1:p.Leu563=
ENST00000693213.1:n.967G>A
ENST00000320876.11:c.1689G>A MANE Select	ENSP00000326603.7:p.Leu563=
ENST00000320876.10:c.1689G>A	ENSP00000326603.6:p.Leu563=
ENST00000577300.1:n.40G>A
ENST00000577880.5:c.102G>A	ENSP00000463049.1:p.Leu34=
NM_015295.2:c.1689G>A	NP_056110.2:p.Leu563=
XM_011525642.1:c.1689G>A	XP_011523944.1:p.Leu563=
XM_011525643.1:c.1689G>A	XP_011523945.1:p.Leu563=
XM_011525644.1:c.1305G>A	XP_011523946.1:p.Leu435=
XM_011525645.1:c.1125G>A	XP_011523947.1:p.Leu375=
XM_011525646.1:c.1689G>A	XP_011523948.1:p.Leu563=
XM_011525647.1:c.1689G>A	XP_011523949.1:p.Leu563=
XR_430039.1:n.1878G>A
XR_935054.1:n.1878G>A
XR_935055.1:n.1878G>A
XM_011525643.2:c.1689G>A	XP_011523945.1:p.Leu563=
XM_017025684.1:c.1125G>A	XP_016881173.1:p.Leu375=
XR_001753172.1:n.1878G>A
XR_001753173.1:n.1878G>A
XR_001753174.1:n.1878G>A
XR_001753175.1:n.1878G>A
XR_001753176.1:n.1878G>A
XR_001753177.1:n.1878G>A
XR_001753178.1:n.1878G>A
XR_001753179.1:n.1878G>A
XR_935055.2:n.1878G>A
NM_015295.3:c.1689G>A MANE Select	NP_056110.2:p.Leu563=