Canonical Allele Identifier: CA516561518

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 1618996
• ClinVar RCV Id: RCV002086407
• dbSNP Id: rs2146602244
• MyVariant Identifiers: chrX:g.53436041T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53409110T>G , CM000685.2:g.53409110T>G	GRCh38
NC_000023.10:g.53436041T>G , CM000685.1:g.53436041T>G	GRCh37
NC_000023.9:g.53452766T>G	NCBI36
NG_006988.2:g.18561A>C , LRG_773:g.18561A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1497A>C MANE Select	ENSP00000323421.3:p.Arg499=
ENST00000674590.1:c.729A>C	ENSP00000502626.1:p.Arg243=
ENST00000675065.1:n.849A>C
ENST00000675504.1:c.1431A>C	ENSP00000502524.1:p.Arg477=
ENST00000322213.8:c.1497A>C	ENSP00000323421.3:p.Arg499=
ENST00000375340.10:c.1431A>C	ENSP00000364489.7:p.Arg477=
NM_001281463.1:c.1431A>C , LRG_773t1:c.1431A>C	NP_001268392.1:p.Arg477=
NM_006306.3:c.1497A>C , LRG_773t2:c.1497A>C	NP_006297.2:p.Arg499=
NM_006306.4:c.1497A>C MANE Select	NP_006297.2:p.Arg499=