Canonical Allele Identifier: CA357497592
Gene: ADH7 HGNC NCBI

Linked Data

dbSNP Id: rs1453860815
gnomAD v4: 4-99420649-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99420649C>T , CM000666.2:g.99420649C>T GRCh38
NC_000004.11:g.100341806C>T , CM000666.1:g.100341806C>T GRCh37
NC_000004.10:g.100560829C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000437033.7:c.709G>A MANE Select ENSP00000414254.2:p.Ala237Thr
ENST00000209665.8:c.745G>A ENSP00000209665.4:p.Ala249Thr
ENST00000437033.6:c.709G>A ENSP00000414254.2:p.Ala237Thr
ENST00000476959.5:c.769G>A ENSP00000420269.1:p.Ala257Thr
ENST00000482593.5:c.538G>A ENSP00000420613.1:p.Ala180Thr
NM_000673.4:c.745G>A NP_000664.2:p.Ala249Thr
NM_001166504.1:c.769G>A NP_001159976.1:p.Ala257Thr
NM_000673.7:c.709G>A MANE Select NP_000664.3:p.Ala237Thr
NM_001166504.2:c.769G>A NP_001159976.1:p.Ala257Thr