Canonical Allele Identifier: CA101603335
Gene: ADH5 HGNC NCBI

Linked Data

dbSNP Id: rs1038916011
gnomAD v3: 4-99078088-G-C
gnomAD v4: 4-99078088-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99078088G>C , CM000666.2:g.99078088G>C GRCh38
NC_000004.11:g.99999239G>C , CM000666.1:g.99999239G>C GRCh37
NC_000004.10:g.100218262G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000296412.14:c.345-1165C>G MANE Select ENSP00000296412.8:n.345-1165C>G
ENST00000296412.13:c.345-1165C>G ENSP00000296412.8:n.345-1165C>G
ENST00000296412.12:c.345-1165C>G ENSP00000296412.8:n.345-1165C>G
ENST00000502590.5:c.*25-1165C>G ENSP00000422119.1:n.*25-1165C>G
ENST00000503130.5:c.306-1165C>G ENSP00000427049.1:n.306-1165C>G
ENST00000505652.1:c.*169-1165C>G ENSP00000421556.1:n.*169-1165C>G
ENST00000508511.5:n.362-1165C>G
ENST00000512604.1:n.205-1165C>G
ENST00000512621.5:n.333-1165C>G
ENST00000512659.5:c.*32-1165C>G ENSP00000424650.1:n.*32-1165C>G
ENST00000512991.5:n.543-1165C>G
ENST00000626055.2:c.*32-1165C>G ENSP00000487496.1:n.*32-1165C>G
NM_000671.4:c.345-1165C>G MANE Select NP_000662.3:n.345-1165C>G