Canonical Allele Identifier: CA357498617
Gene: ADH7 HGNC NCBI

Linked Data

gnomAD v4: 4-99428522-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99428522T>A , CM000666.2:g.99428522T>A GRCh38
NC_000004.11:g.100349679T>A , CM000666.1:g.100349679T>A GRCh37
NC_000004.10:g.100568702T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000437033.7:c.229A>T MANE Select ENSP00000414254.2:p.Ile77Phe
ENST00000209665.8:c.265A>T ENSP00000209665.4:p.Ile89Phe
ENST00000437033.6:c.229A>T ENSP00000414254.2:p.Ile77Phe
ENST00000474027.1:c.58A>T ENSP00000420300.1:p.Ile20Phe
ENST00000476959.5:c.289A>T ENSP00000420269.1:p.Ile97Phe
ENST00000482593.5:c.58A>T ENSP00000420613.1:p.Ile20Phe
NM_000673.4:c.265A>T NP_000664.2:p.Ile89Phe
NM_001166504.1:c.289A>T NP_001159976.1:p.Ile97Phe
NM_000673.7:c.229A>T MANE Select NP_000664.3:p.Ile77Phe
NM_001166504.2:c.289A>T NP_001159976.1:p.Ile97Phe