Canonical Allele Identifier: CA876268839
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 913477
ClinVar RCV Id: RCV001167108
dbSNP Id: rs1311438037
gnomAD v3: X-53378169-A-G
gnomAD v4: X-53378169-A-G
MyVariant Identifiers: chrX:g.53378169A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53378169A>G , CM000685.2:g.53378169A>G GRCh38
NC_000023.10:g.53405090A>G , CM000685.1:g.53405090A>G GRCh37
NC_000023.9:g.53421815A>G NCBI36
NG_006988.2:g.49502T>C , LRG_773:g.49502T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000322213.9:c.*1934T>C MANE Select ENSP00000323421.3:n.*1934T>C
ENST00000675504.1:c.*1934T>C ENSP00000502524.1:n.*1934T>C
ENST00000322213.8:c.*1934T>C ENSP00000323421.3:n.*1934T>C
ENST00000375340.10:c.*1934T>C ENSP00000364489.7:n.*1934T>C
NM_001281463.1:c.*1934T>C , LRG_773t1:c.*1934T>C NP_001268392.1:n.*1934T>C
NM_006306.3:c.*1934T>C , LRG_773t2:c.*1934T>C NP_006297.2:n.*1934T>C
NM_006306.4:c.*1934T>C MANE Select NP_006297.2:n.*1934T>C
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