Canonical Allele Identifier: CA10420520
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 589761
ClinVar RCV Id: RCV002317474 RCV002533047
dbSNP Id: rs782379340
ExAC: X:53432578 C / A
gnomAD v2: X-53432578-C-A
gnomAD v3: X-53405646-C-A
gnomAD v4: X-53405646-C-A
MyVariant Identifiers: chrX:g.53432578C>A (hg19) chrX:g.53405646C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53405646C>A , CM000685.2:g.53405646C>A GRCh38
NC_000023.10:g.53432578C>A , CM000685.1:g.53432578C>A GRCh37
NC_000023.9:g.53449303C>A NCBI36
NG_006988.2:g.22025G>T , LRG_773:g.22025G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.1758G>T MANE Select ENSP00000323421.3:p.Arg586=
ENST00000674590.1:c.990G>T ENSP00000502626.1:p.Arg330=
ENST00000675065.1:n.1110G>T
ENST00000675504.1:c.1692G>T ENSP00000502524.1:p.Arg564=
ENST00000322213.8:c.1758G>T ENSP00000323421.3:p.Arg586=
ENST00000375340.10:c.1692G>T ENSP00000364489.7:p.Arg564=
NM_001281463.1:c.1692G>T , LRG_773t1:c.1692G>T NP_001268392.1:p.Arg564=
NM_006306.3:c.1758G>T , LRG_773t2:c.1758G>T NP_006297.2:p.Arg586=
NM_006306.4:c.1758G>T MANE Select NP_006297.2:p.Arg586=
Search 100 bp 5'
Search 100 bp 3'