Canonical Allele Identifier: CA393165039
Gene: CYP1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74752130T>C , CM000677.2:g.74752130T>C GRCh38
NC_000015.9:g.75044471T>C , CM000677.1:g.75044471T>C GRCh37
NC_000015.8:g.72831524T>C NCBI36
NG_008431.1:g.34589T>C
NG_008431.2:g.34589T>C
NG_061543.1:g.8286T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000343932.5:c.1049T>C MANE Select ENSP00000342007.4:p.Val350Ala
ENST00000343932.4:c.1049T>C ENSP00000342007.4:p.Val350Ala
NM_000761.4:c.1049T>C NP_000752.2:p.Val350Ala
NM_000761.5:c.1049T>C MANE Select NP_000752.2:p.Val350Ala