Canonical Allele Identifier: CA393179129
Gene: CYP1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74750255A>T , CM000677.2:g.74750255A>T GRCh38
NC_000015.9:g.75042596A>T , CM000677.1:g.75042596A>T GRCh37
NC_000015.8:g.72829649A>T NCBI36
NG_008431.1:g.32714A>T
NG_008431.2:g.32714A>T
NG_061543.1:g.6411A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.517A>T MANE Select ENSP00000342007.4:p.Ile173Phe
ENST00000343932.4:c.517A>T ENSP00000342007.4:p.Ile173Phe
NM_000761.4:c.517A>T NP_000752.2:p.Ile173Phe
NM_000761.5:c.517A>T MANE Select NP_000752.2:p.Ile173Phe