Canonical Allele Identifier: CA393179126
Gene: CYP1A2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.517A>C MANE Select ENSP00000342007.4:p.Ile173Leu
ENST00000343932.4:c.517A>C ENSP00000342007.4:p.Ile173Leu
NM_000761.4:c.517A>C NP_000752.2:p.Ile173Leu
NM_000761.5:c.517A>C MANE Select NP_000752.2:p.Ile173Leu