Canonical Allele Identifier: CA234957
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 167705
ClinVar RCV Id: RCV000153975
dbSNP Id: rs727504164
MyVariant Identifiers: chrX:g.53432502C>T (hg19) chrX:g.53405570C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53405570C>T , CM000685.2:g.53405570C>T GRCh38
NC_000023.10:g.53432502C>T , CM000685.1:g.53432502C>T GRCh37
NC_000023.9:g.53449227C>T NCBI36
NG_006988.2:g.22101G>A , LRG_773:g.22101G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000322213.9:c.1834G>A MANE Select ENSP00000323421.3:p.Ala612Thr
ENST00000674590.1:c.1066G>A ENSP00000502626.1:p.Ala356Thr
ENST00000675065.1:n.1186G>A
ENST00000675504.1:c.1768G>A ENSP00000502524.1:p.Ala590Thr
ENST00000322213.8:c.1834G>A ENSP00000323421.3:p.Ala612Thr
ENST00000375340.10:c.1768G>A ENSP00000364489.7:p.Ala590Thr
NM_001281463.1:c.1768G>A , LRG_773t1:c.1768G>A NP_001268392.1:p.Ala590Thr
NM_006306.3:c.1834G>A , LRG_773t2:c.1834G>A NP_006297.2:p.Ala612Thr
NM_006306.4:c.1834G>A MANE Select NP_006297.2:p.Ala612Thr
Search 100 bp 5'
Search 100 bp 3'