Canonical Allele Identifier: CA516561233

Gene: SMC1A

Linked Data

• MyVariant Identifiers: chrX:g.53435999G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53409068G>T , CM000685.2:g.53409068G>T	GRCh38
NC_000023.10:g.53435999G>T , CM000685.1:g.53435999G>T	GRCh37
NC_000023.9:g.53452724G>T	NCBI36
NG_006988.2:g.18603C>A , LRG_773:g.18603C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1539C>A MANE Select	ENSP00000323421.3:p.Gly513=
ENST00000674590.1:c.771C>A	ENSP00000502626.1:p.Gly257=
ENST00000675065.1:n.891C>A
ENST00000675504.1:c.1473C>A	ENSP00000502524.1:p.Gly491=
ENST00000322213.8:c.1539C>A	ENSP00000323421.3:p.Gly513=
ENST00000375340.10:c.1473C>A	ENSP00000364489.7:p.Gly491=
NM_001281463.1:c.1473C>A , LRG_773t1:c.1473C>A	NP_001268392.1:p.Gly491=
NM_006306.3:c.1539C>A , LRG_773t2:c.1539C>A	NP_006297.2:p.Gly513=
NM_006306.4:c.1539C>A MANE Select	NP_006297.2:p.Gly513=