Canonical Allele Identifier: CA101603508
Gene: ADH5 HGNC NCBI

Linked Data

dbSNP Id: rs933218475
gnomAD v3: 4-99078414-T-A
gnomAD v4: 4-99078414-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99078414T>A , CM000666.2:g.99078414T>A GRCh38
NC_000004.11:g.99999565T>A , CM000666.1:g.99999565T>A GRCh37
NC_000004.10:g.100218588T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296412.14:c.345-1491A>T MANE Select ENSP00000296412.8:n.345-1491A>T
ENST00000296412.13:c.345-1491A>T ENSP00000296412.8:n.345-1491A>T
ENST00000296412.12:c.345-1491A>T ENSP00000296412.8:n.345-1491A>T
ENST00000502590.5:c.*25-1491A>T ENSP00000422119.1:n.*25-1491A>T
ENST00000503130.5:c.306-1491A>T ENSP00000427049.1:n.306-1491A>T
ENST00000505652.1:c.*168+1406A>T ENSP00000421556.1:n.*168+1406A>T
ENST00000508511.5:n.362-1491A>T
ENST00000512604.1:n.204+1406A>T
ENST00000512621.5:n.333-1491A>T
ENST00000512659.5:c.*32-1491A>T ENSP00000424650.1:n.*32-1491A>T
ENST00000512991.5:n.543-1491A>T
ENST00000626055.2:c.*32-1491A>T ENSP00000487496.1:n.*32-1491A>T
NM_000671.4:c.345-1491A>T MANE Select NP_000662.3:n.345-1491A>T