Canonical Allele Identifier: CA413253212

Gene: SMC1A

Linked Data

• MyVariant Identifiers: chrX:g.53432564G>C (hg19) ; chrX:g.53405632G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405632G>C , CM000685.2:g.53405632G>C	GRCh38
NC_000023.10:g.53432564G>C , CM000685.1:g.53432564G>C	GRCh37
NC_000023.9:g.53449289G>C	NCBI36
NG_006988.2:g.22039C>G , LRG_773:g.22039C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1772C>G MANE Select	ENSP00000323421.3:p.Ala591Gly
ENST00000674590.1:c.1004C>G	ENSP00000502626.1:p.Ala335Gly
ENST00000675065.1:n.1124C>G
ENST00000675504.1:c.1706C>G	ENSP00000502524.1:p.Ala569Gly
ENST00000322213.8:c.1772C>G	ENSP00000323421.3:p.Ala591Gly
ENST00000375340.10:c.1706C>G	ENSP00000364489.7:p.Ala569Gly
NM_001281463.1:c.1706C>G , LRG_773t1:c.1706C>G	NP_001268392.1:p.Ala569Gly
NM_006306.3:c.1772C>G , LRG_773t2:c.1772C>G	NP_006297.2:p.Ala591Gly
NM_006306.4:c.1772C>G MANE Select	NP_006297.2:p.Ala591Gly