Canonical Allele Identifier: CA393169329
Gene: CYP1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.74754847G>A
GRCh37 chr15:g.75047188G>A
Revel Score:
ENST00000343932 (MANE Select) 0.206
gnomAD v3:
15:74754847 G / A
gnomAD v4:
chr15-74754847-G-A
Joint Max Group AF 0.00000365 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74754847G>A , CM000677.2:g.74754847G>A GRCh38
NC_000015.9:g.75047188G>A , CM000677.1:g.75047188G>A GRCh37
NC_000015.8:g.72834241G>A NCBI36
NG_008431.1:g.37306G>A
NG_008431.2:g.37306G>A
NG_061543.1:g.11003G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.1310G>A MANE Select ENSP00000342007.4:p.Gly437Asp
ENST00000343932.4:c.1310G>A ENSP00000342007.4:p.Gly437Asp
NM_000761.4:c.1310G>A NP_000752.2:p.Gly437Asp
NM_000761.5:c.1310G>A MANE Select NP_000752.2:p.Gly437Asp
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