Canonical Allele Identifier: CA401682507

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2726483T>G , CM000680.2:g.2726483T>G	GRCh38
NC_000018.9:g.2726481T>G , CM000680.1:g.2726481T>G	GRCh37
NC_000018.8:g.2716481T>G	NCBI36
NG_031972.1:g.75596T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015295.3:c.2732T>G MANE Select	NP_056110.2:p.Leu911Ter
ENST00000320876.11:c.2732T>G MANE Select	ENSP00000326603.7:p.Leu911Ter
NM_015295.2:c.2732T>G	NP_056110.2:p.Leu911Ter
ENST00000320876.10:c.2732T>G	ENSP00000326603.6:p.Leu911Ter
ENST00000577880.5:c.1145T>G	ENSP00000463049.1:p.Leu382Ter
ENST00000581383.1:n.126T>G
ENST00000583441.2:n.418T>G
ENST00000584897.5:c.552T>G
ENST00000688342.1:c.2732T>G	ENSP00000508422.1:p.Leu911Ter
ENST00000690757.1:n.189T>G
ENST00000693213.1:n.2010T>G
XM_011525642.1:c.2732T>G	XP_011523944.1:p.Leu911Ter
XM_011525643.1:c.2732T>G	XP_011523945.1:p.Leu911Ter
XM_011525643.2:c.2732T>G	XP_011523945.1:p.Leu911Ter
XM_011525644.1:c.2348T>G	XP_011523946.1:p.Leu783Ter
XM_011525645.1:c.2168T>G	XP_011523947.1:p.Leu723Ter
XM_011525646.1:c.2732T>G	XP_011523948.1:p.Leu911Ter
XM_011525647.1:c.2732T>G	XP_011523949.1:p.Leu911Ter
XM_017025684.1:c.2168T>G	XP_016881173.1:p.Leu723Ter
XR_001753172.1:n.2921T>G
XR_001753173.1:n.2921T>G
XR_001753174.1:n.2921T>G
XR_001753175.1:n.2921T>G
XR_001753176.1:n.2921T>G
XR_001753177.1:n.2921T>G
XR_001753178.1:n.2921T>G
XR_001753179.1:n.2921T>G
XR_430039.1:n.2921T>G
XR_935054.1:n.2921T>G
XR_935055.1:n.2921T>G
XR_935055.2:n.2921T>G