Canonical Allele Identifier: CA255969
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 11675
ClinVar RCV Id: RCV000012441 RCV001577833
dbSNP Id: rs122454123
MyVariant Identifiers: chrX:g.53436051C>T (hg19) chrX:g.53409120C>T (hg38)
PubMed: PMID:17273969 PMID:18996922
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53409120C>T , CM000685.2:g.53409120C>T GRCh38
NC_000023.10:g.53436051C>T , CM000685.1:g.53436051C>T GRCh37
NC_000023.9:g.53452776C>T NCBI36
NG_006988.2:g.18551G>A , LRG_773:g.18551G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000322213.9:c.1487G>A MANE Select ENSP00000323421.3:p.Arg496His
ENST00000674590.1:c.719G>A ENSP00000502626.1:p.Arg240His
ENST00000675065.1:n.839G>A
ENST00000675504.1:c.1421G>A ENSP00000502524.1:p.Arg474His
ENST00000322213.8:c.1487G>A ENSP00000323421.3:p.Arg496His
ENST00000375340.10:c.1421G>A ENSP00000364489.7:p.Arg474His
NM_001281463.1:c.1421G>A , LRG_773t1:c.1421G>A NP_001268392.1:p.Arg474His
NM_006306.3:c.1487G>A , LRG_773t2:c.1487G>A NP_006297.2:p.Arg496His
NM_006306.4:c.1487G>A MANE Select NP_006297.2:p.Arg496His
Search 100 bp 5'
Search 100 bp 3'