Canonical Allele Identifier: CA413243896

Gene: SMC1A

Linked Data

• MyVariant Identifiers: chrX:g.53409452G>T (hg19) ; chrX:g.53382531G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53382531G>T , CM000685.2:g.53382531G>T	GRCh38
NC_000023.10:g.53409452G>T , CM000685.1:g.53409452G>T	GRCh37
NC_000023.9:g.53426177G>T	NCBI36
NG_006988.2:g.45140C>A , LRG_773:g.45140C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3260C>A MANE Select	ENSP00000323421.3:p.Ala1087Asp
ENST00000674590.1:c.2492C>A	ENSP00000502626.1:p.Ala831Asp
ENST00000675504.1:c.3194C>A	ENSP00000502524.1:p.Ala1065Asp
ENST00000322213.8:c.3260C>A	ENSP00000323421.3:p.Ala1087Asp
ENST00000375340.10:c.3194C>A	ENSP00000364489.7:p.Ala1065Asp
ENST00000469129.1:n.116C>A
ENST00000470241.2:c.550C>A
NM_001281463.1:c.3194C>A , LRG_773t1:c.3194C>A	NP_001268392.1:p.Ala1065Asp
NM_006306.3:c.3260C>A , LRG_773t2:c.3260C>A	NP_006297.2:p.Ala1087Asp
NM_006306.4:c.3260C>A MANE Select	NP_006297.2:p.Ala1087Asp