Canonical Allele Identifier: CA2693803680
Gene: SMC1A HGNC NCBI

Linked Data

gnomAD v4: X-53381981-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53381981G>T , CM000685.2:g.53381981G>T GRCh38
NC_000023.10:g.53408902G>T , CM000685.1:g.53408902G>T GRCh37
NC_000023.9:g.53425627G>T NCBI36
NG_006988.2:g.45690C>A , LRG_773:g.45690C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.3437+251C>A MANE Select ENSP00000323421.3:n.3437+251C>A
ENST00000674590.1:c.2669+251C>A ENSP00000502626.1:n.2669+251C>A
ENST00000675504.1:c.3371+251C>A ENSP00000502524.1:n.3371+251C>A
ENST00000322213.8:c.3437+251C>A ENSP00000323421.3:n.3437+251C>A
ENST00000375340.10:c.3371+251C>A ENSP00000364489.7:n.3371+251C>A
ENST00000469129.1:n.544C>A
ENST00000470241.2:c.727+251C>A
NM_001281463.1:c.3371+251C>A , LRG_773t1:c.3371+251C>A NP_001268392.1:n.3371+251C>A
NM_006306.3:c.3437+251C>A , LRG_773t2:c.3437+251C>A NP_006297.2:n.3437+251C>A
NM_006306.4:c.3437+251C>A MANE Select NP_006297.2:n.3437+251C>A
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