Canonical Allele Identifier: CA393164540
Gene: CYP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1167543869
gnomAD v2: 15-75044140-C-A
gnomAD v4: 15-74751799-C-A
MyVariant Identifiers: chr15:g.75044140C>A (hg19) chr15:g.74751799C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74751799C>A , CM000677.2:g.74751799C>A GRCh38
NC_000015.9:g.75044140C>A , CM000677.1:g.75044140C>A GRCh37
NC_000015.8:g.72831193C>A NCBI36
NG_008431.1:g.34258C>A
NG_008431.2:g.34258C>A
NG_061543.1:g.7955C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000343932.5:c.987C>A MANE Select ENSP00000342007.4:p.Ser329Arg
ENST00000343932.4:c.987C>A ENSP00000342007.4:p.Ser329Arg
NM_000761.4:c.987C>A NP_000752.2:p.Ser329Arg
NM_000761.5:c.987C>A MANE Select NP_000752.2:p.Ser329Arg
Search 100 bp 5'
Search 100 bp 3'