Canonical Allele Identifier: CA401678056
Gene: SMCHD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.2703712C>A , CM000680.2:g.2703712C>A GRCh38
NC_000018.9:g.2703710C>A , CM000680.1:g.2703710C>A GRCh37
NC_000018.8:g.2693710C>A NCBI36
NG_031972.1:g.52825C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684915.1:n.1825C>A
ENST00000688342.1:c.1668C>A ENSP00000508422.1:p.Asp556Glu
ENST00000693213.1:n.946C>A
ENST00000320876.11:c.1668C>A MANE Select ENSP00000326603.7:p.Asp556Glu
ENST00000320876.10:c.1668C>A ENSP00000326603.6:p.Asp556Glu
ENST00000577300.1:n.19C>A
ENST00000577880.5:c.81C>A ENSP00000463049.1:p.Asp27Glu
NM_015295.2:c.1668C>A NP_056110.2:p.Asp556Glu
XM_011525642.1:c.1668C>A XP_011523944.1:p.Asp556Glu
XM_011525643.1:c.1668C>A XP_011523945.1:p.Asp556Glu
XM_011525644.1:c.1284C>A XP_011523946.1:p.Asp428Glu
XM_011525645.1:c.1104C>A XP_011523947.1:p.Asp368Glu
XM_011525646.1:c.1668C>A XP_011523948.1:p.Asp556Glu
XM_011525647.1:c.1668C>A XP_011523949.1:p.Asp556Glu
XR_430039.1:n.1857C>A
XR_935054.1:n.1857C>A
XR_935055.1:n.1857C>A
XM_011525643.2:c.1668C>A XP_011523945.1:p.Asp556Glu
XM_017025684.1:c.1104C>A XP_016881173.1:p.Asp368Glu
XR_001753172.1:n.1857C>A
XR_001753173.1:n.1857C>A
XR_001753174.1:n.1857C>A
XR_001753175.1:n.1857C>A
XR_001753176.1:n.1857C>A
XR_001753177.1:n.1857C>A
XR_001753178.1:n.1857C>A
XR_001753179.1:n.1857C>A
XR_935055.2:n.1857C>A
NM_015295.3:c.1668C>A MANE Select NP_056110.2:p.Asp556Glu