Canonical Allele Identifier: CA2629512008
Gene: CYP1A2 HGNC NCBI

Linked Data

gnomAD v4: 15-74755204-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74755204C>A , CM000677.2:g.74755204C>A GRCh38
NC_000015.9:g.75047545C>A , CM000677.1:g.75047545C>A GRCh37
NC_000015.8:g.72834598C>A NCBI36
NG_008431.1:g.37663C>A
NG_008431.2:g.37663C>A
NG_061543.1:g.11360C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.*116C>A MANE Select ENSP00000342007.4:n.*116C>A
ENST00000343932.4:c.*116C>A ENSP00000342007.4:n.*116C>A
NM_000761.4:c.*116C>A NP_000752.2:n.*116C>A
NM_000761.5:c.*116C>A MANE Select NP_000752.2:n.*116C>A
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