Canonical Allele Identifier: CA413253174

Gene: SMC1A

Linked Data

• COSMIC: COSM5621872
• MyVariant Identifiers: chrX:g.53432555A>G (hg19) ; chrX:g.53405623A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405623A>G , CM000685.2:g.53405623A>G	GRCh38
NC_000023.10:g.53432555A>G , CM000685.1:g.53432555A>G	GRCh37
NC_000023.9:g.53449280A>G	NCBI36
NG_006988.2:g.22048T>C , LRG_773:g.22048T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1781T>C MANE Select	ENSP00000323421.3:p.Val594Ala
ENST00000674590.1:c.1013T>C	ENSP00000502626.1:p.Val338Ala
ENST00000675065.1:n.1133T>C
ENST00000675504.1:c.1715T>C	ENSP00000502524.1:p.Val572Ala
ENST00000322213.8:c.1781T>C	ENSP00000323421.3:p.Val594Ala
ENST00000375340.10:c.1715T>C	ENSP00000364489.7:p.Val572Ala
NM_001281463.1:c.1715T>C , LRG_773t1:c.1715T>C	NP_001268392.1:p.Val572Ala
NM_006306.3:c.1781T>C , LRG_773t2:c.1781T>C	NP_006297.2:p.Val594Ala
NM_006306.4:c.1781T>C MANE Select	NP_006297.2:p.Val594Ala