Canonical Allele Identifier: CA357497721
Gene: ADH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99420711G>A , CM000666.2:g.99420711G>A GRCh38
NC_000004.11:g.100341868G>A , CM000666.1:g.100341868G>A GRCh37
NC_000004.10:g.100560891G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000437033.7:c.647C>T MANE Select ENSP00000414254.2:p.Ala216Val
ENST00000209665.8:c.683C>T ENSP00000209665.4:p.Ala228Val
ENST00000437033.6:c.647C>T ENSP00000414254.2:p.Ala216Val
ENST00000476959.5:c.707C>T ENSP00000420269.1:p.Ala236Val
ENST00000482593.5:c.476C>T ENSP00000420613.1:p.Ala159Val
NM_000673.4:c.683C>T NP_000664.2:p.Ala228Val
NM_001166504.1:c.707C>T NP_001159976.1:p.Ala236Val
NM_000673.7:c.647C>T MANE Select NP_000664.3:p.Ala216Val
NM_001166504.2:c.707C>T NP_001159976.1:p.Ala236Val