Canonical Allele Identifier: CA2693802242
Gene: SMC1A HGNC NCBI

Linked Data

gnomAD v4: X-53378146-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53378146G>T , CM000685.2:g.53378146G>T GRCh38
NC_000023.10:g.53405067G>T , CM000685.1:g.53405067G>T GRCh37
NC_000023.9:g.53421792G>T NCBI36
NG_006988.2:g.49525C>A , LRG_773:g.49525C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000322213.9:c.*1957C>A MANE Select ENSP00000323421.3:n.*1957C>A
ENST00000675504.1:c.*1957C>A ENSP00000502524.1:n.*1957C>A
ENST00000322213.8:c.*1957C>A ENSP00000323421.3:n.*1957C>A
ENST00000375340.10:c.*1957C>A ENSP00000364489.7:n.*1957C>A
NM_001281463.1:c.*1957C>A , LRG_773t1:c.*1957C>A NP_001268392.1:n.*1957C>A
NM_006306.3:c.*1957C>A , LRG_773t2:c.*1957C>A NP_006297.2:n.*1957C>A
NM_006306.4:c.*1957C>A MANE Select NP_006297.2:n.*1957C>A
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