Canonical Allele Identifier: CA516688590

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 1624518
• ClinVar RCV Id: RCV002114071
• dbSNP Id: rs2146604747
• MyVariant Identifiers: chrX:g.53439008A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53412058A>G , CM000685.2:g.53412058A>G	GRCh38
NC_000023.10:g.53439008A>G , CM000685.1:g.53439008A>G	GRCh37
NC_000023.9:g.53455733A>G	NCBI36
NG_006988.2:g.15613T>C , LRG_773:g.15613T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.1050T>C MANE Select	ENSP00000323421.3:p.Phe350=
ENST00000674590.1:c.346-157T>C	ENSP00000502626.1:n.346-157T>C
ENST00000675065.1:n.466-157T>C
ENST00000675504.1:c.984T>C	ENSP00000502524.1:p.Phe328=
ENST00000322213.8:c.1050T>C	ENSP00000323421.3:p.Phe350=
ENST00000375340.10:c.984T>C	ENSP00000364489.7:p.Phe328=
ENST00000463684.1:c.*583T>C	ENSP00000476958.1:n.*583T>C
NM_001281463.1:c.984T>C , LRG_773t1:c.984T>C	NP_001268392.1:p.Phe328=
NM_006306.3:c.1050T>C , LRG_773t2:c.1050T>C	NP_006297.2:p.Phe350=
NM_006306.4:c.1050T>C MANE Select	NP_006297.2:p.Phe350=