Canonical Allele Identifier: CA2693805228
Gene: SMC1A HGNC NCBI

Linked Data

gnomAD v4: X-53405205-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53405205A>C , CM000685.2:g.53405205A>C GRCh38
NC_000023.10:g.53432137A>C , CM000685.1:g.53432137A>C GRCh37
NC_000023.9:g.53448862A>C NCBI36
NG_006988.2:g.22466T>G , LRG_773:g.22466T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.2058+40T>G MANE Select ENSP00000323421.3:n.2058+40T>G
ENST00000674590.1:c.1290+40T>G ENSP00000502626.1:n.1290+40T>G
ENST00000675065.1:n.1410+40T>G
ENST00000675504.1:c.1992+40T>G ENSP00000502524.1:n.1992+40T>G
ENST00000322213.8:c.2058+40T>G ENSP00000323421.3:n.2058+40T>G
ENST00000375340.10:c.1992+40T>G ENSP00000364489.7:n.1992+40T>G
NM_001281463.1:c.1992+40T>G , LRG_773t1:c.1992+40T>G NP_001268392.1:n.1992+40T>G
NM_006306.3:c.2058+40T>G , LRG_773t2:c.2058+40T>G NP_006297.2:n.2058+40T>G
NM_006306.4:c.2058+40T>G MANE Select NP_006297.2:n.2058+40T>G
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