Canonical Allele Identifier: CA272820729
Gene: CYP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs902380363
gnomAD v3: 15-74750257-C-A
gnomAD v4: 15-74750257-C-A
MyVariant Identifiers: chr15:g.75042598C>A (hg19) chr15:g.74750257C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74750257C>A , CM000677.2:g.74750257C>A GRCh38
NC_000015.9:g.75042598C>A , CM000677.1:g.75042598C>A GRCh37
NC_000015.8:g.72829651C>A NCBI36
NG_008431.1:g.32716C>A
NG_008431.2:g.32716C>A
NG_061543.1:g.6413C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.519C>A MANE Select ENSP00000342007.4:p.Ile173=
ENST00000343932.4:c.519C>A ENSP00000342007.4:p.Ile173=
NM_000761.4:c.519C>A NP_000752.2:p.Ile173=
NM_000761.5:c.519C>A MANE Select NP_000752.2:p.Ile173=
Search 100 bp 5'
Search 100 bp 3'