Canonical Allele Identifier: CA1065892464
Gene: ADH5 HGNC NCBI

Linked Data

dbSNP Id: rs1727962154
gnomAD v3: 4-99078121-C-T
gnomAD v4: 4-99078121-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99078121C>T , CM000666.2:g.99078121C>T GRCh38
NC_000004.11:g.99999272C>T , CM000666.1:g.99999272C>T GRCh37
NC_000004.10:g.100218295C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000296412.14:c.345-1198G>A MANE Select ENSP00000296412.8:n.345-1198G>A
ENST00000296412.13:c.345-1198G>A ENSP00000296412.8:n.345-1198G>A
ENST00000296412.12:c.345-1198G>A ENSP00000296412.8:n.345-1198G>A
ENST00000502590.5:c.*25-1198G>A ENSP00000422119.1:n.*25-1198G>A
ENST00000503130.5:c.306-1198G>A ENSP00000427049.1:n.306-1198G>A
ENST00000505652.1:c.*169-1198G>A ENSP00000421556.1:n.*169-1198G>A
ENST00000508511.5:n.362-1198G>A
ENST00000512604.1:n.205-1198G>A
ENST00000512621.5:n.333-1198G>A
ENST00000512659.5:c.*32-1198G>A ENSP00000424650.1:n.*32-1198G>A
ENST00000512991.5:n.543-1198G>A
ENST00000626055.2:c.*32-1198G>A ENSP00000487496.1:n.*32-1198G>A
NM_000671.4:c.345-1198G>A MANE Select NP_000662.3:n.345-1198G>A