Canonical Allele Identifier: CA2693805221
Gene: SMC1A HGNC NCBI

Linked Data

gnomAD v4: X-53405181-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53405181T>C , CM000685.2:g.53405181T>C GRCh38
NC_000023.10:g.53432113T>C , CM000685.1:g.53432113T>C GRCh37
NC_000023.9:g.53448838T>C NCBI36
NG_006988.2:g.22490A>G , LRG_773:g.22490A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.2059-32A>G MANE Select ENSP00000323421.3:n.2059-32A>G
ENST00000674590.1:c.1291-32A>G ENSP00000502626.1:n.1291-32A>G
ENST00000675065.1:n.1411-32A>G
ENST00000675504.1:c.1993-32A>G ENSP00000502524.1:n.1993-32A>G
ENST00000322213.8:c.2059-32A>G ENSP00000323421.3:n.2059-32A>G
ENST00000375340.10:c.1993-32A>G ENSP00000364489.7:n.1993-32A>G
NM_001281463.1:c.1993-32A>G , LRG_773t1:c.1993-32A>G NP_001268392.1:n.1993-32A>G
NM_006306.3:c.2059-32A>G , LRG_773t2:c.2059-32A>G NP_006297.2:n.2059-32A>G
NM_006306.4:c.2059-32A>G MANE Select NP_006297.2:n.2059-32A>G
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