Canonical Allele Identifier: CA8871384

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2750447G>A , CM000680.2:g.2750447G>A	GRCh38
NC_000018.9:g.2750445G>A , CM000680.1:g.2750445G>A	GRCh37
NC_000018.8:g.2740445G>A	NCBI36
NG_031972.1:g.99560G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015295.3:c.4105G>A MANE Select	NP_056110.2:p.Val1369Ile
ENST00000320876.11:c.4105G>A MANE Select	ENSP00000326603.7:p.Val1369Ile
NM_015295.2:c.4105G>A	NP_056110.2:p.Val1369Ile
ENST00000320876.10:c.4105G>A	ENSP00000326603.6:p.Val1369Ile
ENST00000577880.5:c.2518G>A	ENSP00000463049.1:p.Val840Ile
ENST00000583441.2:n.1791G>A
ENST00000584897.5:c.1925G>A
ENST00000645355.1:c.18G>A
ENST00000686763.1:c.910G>A	ENSP00000510263.1:p.Val304Ile
ENST00000686864.1:c.867G>A
ENST00000688342.1:c.4105G>A	ENSP00000508422.1:p.Val1369Ile
ENST00000688708.1:n.2761G>A
ENST00000690757.1:n.1562G>A
ENST00000693213.1:n.3303G>A
XM_011525642.1:c.4105G>A	XP_011523944.1:p.Val1369Ile
XM_011525643.1:c.4105G>A	XP_011523945.1:p.Val1369Ile
XM_011525643.2:c.4105G>A	XP_011523945.1:p.Val1369Ile
XM_011525644.1:c.3721G>A	XP_011523946.1:p.Val1241Ile
XM_011525645.1:c.3541G>A	XP_011523947.1:p.Val1181Ile
XM_011525646.1:c.4105G>A	XP_011523948.1:p.Val1369Ile
XM_011525647.1:c.*74G>A	XP_011523949.1:n.*74G>A
XM_017025684.1:c.3541G>A	XP_016881173.1:p.Val1181Ile
XR_001753172.1:n.4294G>A
XR_001753173.1:n.4294G>A
XR_001753174.1:n.4294G>A
XR_001753175.1:n.4294G>A
XR_001753176.1:n.4294G>A
XR_001753177.1:n.4294G>A
XR_001753178.1:n.4214G>A
XR_001753179.1:n.4214G>A
XR_430039.1:n.4294G>A
XR_935054.1:n.4294G>A
XR_935055.1:n.4294G>A
XR_935055.2:n.4294G>A