Canonical Allele Identifier: CA516688533
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2762680
ClinVar RCV Id: RCV003512526
MyVariant Identifiers: chrX:g.53409463C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53382542C>T , CM000685.2:g.53382542C>T GRCh38
NC_000023.10:g.53409463C>T , CM000685.1:g.53409463C>T GRCh37
NC_000023.9:g.53426188C>T NCBI36
NG_006988.2:g.45129G>A , LRG_773:g.45129G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.3249G>A MANE Select ENSP00000323421.3:p.Glu1083=
ENST00000674590.1:c.2481G>A ENSP00000502626.1:p.Glu827=
ENST00000675504.1:c.3183G>A ENSP00000502524.1:p.Glu1061=
ENST00000322213.8:c.3249G>A ENSP00000323421.3:p.Glu1083=
ENST00000375340.10:c.3183G>A ENSP00000364489.7:p.Glu1061=
ENST00000469129.1:n.105G>A
ENST00000470241.2:c.539G>A
NM_001281463.1:c.3183G>A , LRG_773t1:c.3183G>A NP_001268392.1:p.Glu1061=
NM_006306.3:c.3249G>A , LRG_773t2:c.3249G>A NP_006297.2:p.Glu1083=
NM_006306.4:c.3249G>A MANE Select NP_006297.2:p.Glu1083=