Canonical Allele Identifier: CA357497869
Gene: ADH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99420789T>A , CM000666.2:g.99420789T>A GRCh38
NC_000004.11:g.100341946T>A , CM000666.1:g.100341946T>A GRCh37
NC_000004.10:g.100560969T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000437033.7:c.569A>T MANE Select ENSP00000414254.2:p.Lys190Ile
ENST00000209665.8:c.605A>T ENSP00000209665.4:p.Lys202Ile
ENST00000437033.6:c.569A>T ENSP00000414254.2:p.Lys190Ile
ENST00000476959.5:c.629A>T ENSP00000420269.1:p.Lys210Ile
ENST00000482593.5:c.398A>T ENSP00000420613.1:p.Lys133Ile
NM_000673.4:c.605A>T NP_000664.2:p.Lys202Ile
NM_001166504.1:c.629A>T NP_001159976.1:p.Lys210Ile
NM_000673.7:c.569A>T MANE Select NP_000664.3:p.Lys190Ile
NM_001166504.2:c.629A>T NP_001159976.1:p.Lys210Ile