Canonical Allele Identifier: CA393167967
Gene: CYP1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74754804G>C , CM000677.2:g.74754804G>C GRCh38
NC_000015.9:g.75047145G>C , CM000677.1:g.75047145G>C GRCh37
NC_000015.8:g.72834198G>C NCBI36
NG_008431.1:g.37263G>C
NG_008431.2:g.37263G>C
NG_061543.1:g.10960G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.1267G>C MANE Select ENSP00000342007.4:p.Asp423His
ENST00000343932.4:c.1267G>C ENSP00000342007.4:p.Asp423His
NM_000761.4:c.1267G>C NP_000752.2:p.Asp423His
NM_000761.5:c.1267G>C MANE Select NP_000752.2:p.Asp423His