Canonical Allele Identifier: CA10420257
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 665368
ClinVar RCV Id: RCV000823634
dbSNP Id: rs781998306
ExAC: X:53407548 T / A
gnomAD v2: X-53407548-T-A
gnomAD v4: X-53380627-T-A
MyVariant Identifiers: chrX:g.53407548T>A (hg19) chrX:g.53380627T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53380627T>A , CM000685.2:g.53380627T>A GRCh38
NC_000023.10:g.53407548T>A , CM000685.1:g.53407548T>A GRCh37
NC_000023.9:g.53424273T>A NCBI36
NG_006988.2:g.47044A>T , LRG_773:g.47044A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.3611A>T MANE Select ENSP00000323421.3:p.Tyr1204Phe
ENST00000674590.1:c.2843A>T ENSP00000502626.1:p.Tyr948Phe
ENST00000675504.1:c.3545A>T ENSP00000502524.1:p.Tyr1182Phe
ENST00000322213.8:c.3611A>T ENSP00000323421.3:p.Tyr1204Phe
ENST00000375340.10:c.3545A>T ENSP00000364489.7:p.Tyr1182Phe
ENST00000470241.2:c.831A>T
NM_001281463.1:c.3545A>T , LRG_773t1:c.3545A>T NP_001268392.1:p.Tyr1182Phe
NM_006306.3:c.3611A>T , LRG_773t2:c.3611A>T NP_006297.2:p.Tyr1204Phe
NM_006306.4:c.3611A>T MANE Select NP_006297.2:p.Tyr1204Phe
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