Canonical Allele Identifier: CA393177298
Gene: CYP1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74749882G>T , CM000677.2:g.74749882G>T GRCh38
NC_000015.9:g.75042223G>T , CM000677.1:g.75042223G>T GRCh37
NC_000015.8:g.72829276G>T NCBI36
NG_008431.1:g.32341G>T
NG_008431.2:g.32341G>T
NG_061543.1:g.6038G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000343932.5:c.144G>T MANE Select ENSP00000342007.4:p.Trp48Cys
ENST00000343932.4:c.144G>T ENSP00000342007.4:p.Trp48Cys
NM_000761.4:c.144G>T NP_000752.2:p.Trp48Cys
NM_000761.5:c.144G>T MANE Select NP_000752.2:p.Trp48Cys