Canonical Allele Identifier: CA491219788
Gene: CYP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1200740076
gnomAD v2: 15-75044559-C-A
gnomAD v4: 15-74752218-C-A
MyVariant Identifiers: chr15:g.75044559C>A (hg19) chr15:g.74752218C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74752218C>A , CM000677.2:g.74752218C>A GRCh38
NC_000015.9:g.75044559C>A , CM000677.1:g.75044559C>A GRCh37
NC_000015.8:g.72831612C>A NCBI36
NG_008431.1:g.34677C>A
NG_008431.2:g.34677C>A
NG_061543.1:g.8374C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000343932.5:c.1137C>A MANE Select ENSP00000342007.4:p.Ser379=
ENST00000343932.4:c.1137C>A ENSP00000342007.4:p.Ser379=
NM_000761.4:c.1137C>A NP_000752.2:p.Ser379=
NM_000761.5:c.1137C>A MANE Select NP_000752.2:p.Ser379=
Search 100 bp 5'
Search 100 bp 3'