Canonical Allele Identifier: CA516688534
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2876796
ClinVar RCV Id: RCV003624018
dbSNP Id: rs1445642790
gnomAD v2: X-53409466-A-G
gnomAD v3: X-53382545-A-G
gnomAD v4: X-53382545-A-G
MyVariant Identifiers: chrX:g.53409466A>G (hg19) chrX:g.53382545A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53382545A>G , CM000685.2:g.53382545A>G GRCh38
NC_000023.10:g.53409466A>G , CM000685.1:g.53409466A>G GRCh37
NC_000023.9:g.53426191A>G NCBI36
NG_006988.2:g.45126T>C , LRG_773:g.45126T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.3246T>C MANE Select ENSP00000323421.3:p.Asp1082=
ENST00000674590.1:c.2478T>C ENSP00000502626.1:p.Asp826=
ENST00000675504.1:c.3180T>C ENSP00000502524.1:p.Asp1060=
ENST00000322213.8:c.3246T>C ENSP00000323421.3:p.Asp1082=
ENST00000375340.10:c.3180T>C ENSP00000364489.7:p.Asp1060=
ENST00000469129.1:n.102T>C
ENST00000470241.2:c.536T>C
NM_001281463.1:c.3180T>C , LRG_773t1:c.3180T>C NP_001268392.1:p.Asp1060=
NM_006306.3:c.3246T>C , LRG_773t2:c.3246T>C NP_006297.2:p.Asp1082=
NM_006306.4:c.3246T>C MANE Select NP_006297.2:p.Asp1082=
Search 100 bp 5'
Search 100 bp 3'