Canonical Allele Identifier: CA272520
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 159942
ClinVar RCV Id: RCV000147552 RCV000356126 RCV001529713 RCV002316948
dbSNP Id: rs377270943
ExAC: X:53435989 T / G
gnomAD v2: X-53435989-T-G
gnomAD v3: X-53409058-T-G
gnomAD v4: X-53409058-T-G
MyVariant Identifiers: chrX:g.53435989T>G (hg19) chrX:g.53409058T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53409058T>G , CM000685.2:g.53409058T>G GRCh38
NC_000023.10:g.53435989T>G , CM000685.1:g.53435989T>G GRCh37
NC_000023.9:g.53452714T>G NCBI36
NG_006988.2:g.18613A>C , LRG_773:g.18613A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.1545+4A>C MANE Select ENSP00000323421.3:n.1545+4A>C
ENST00000674590.1:c.777+4A>C ENSP00000502626.1:n.777+4A>C
ENST00000675065.1:n.897+4A>C
ENST00000675504.1:c.1479+4A>C ENSP00000502524.1:n.1479+4A>C
ENST00000322213.8:c.1545+4A>C ENSP00000323421.3:n.1545+4A>C
ENST00000375340.10:c.1479+4A>C ENSP00000364489.7:n.1479+4A>C
NM_001281463.1:c.1479+4A>C , LRG_773t1:c.1479+4A>C NP_001268392.1:n.1479+4A>C
NM_006306.3:c.1545+4A>C , LRG_773t2:c.1545+4A>C NP_006297.2:n.1545+4A>C
NM_006306.4:c.1545+4A>C MANE Select NP_006297.2:n.1545+4A>C
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