Canonical Allele Identifier: CA101603199
Gene: ADH5 HGNC NCBI

Linked Data

dbSNP Id: rs768993995
gnomAD v3: 4-99077951-A-G
gnomAD v4: 4-99077951-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99077951A>G , CM000666.2:g.99077951A>G GRCh38
NC_000004.11:g.99999102A>G , CM000666.1:g.99999102A>G GRCh37
NC_000004.10:g.100218125A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000296412.14:c.345-1028T>C MANE Select ENSP00000296412.8:n.345-1028T>C
ENST00000296412.13:c.345-1028T>C ENSP00000296412.8:n.345-1028T>C
ENST00000296412.12:c.345-1028T>C ENSP00000296412.8:n.345-1028T>C
ENST00000502590.5:c.*25-1028T>C ENSP00000422119.1:n.*25-1028T>C
ENST00000503130.5:c.306-1028T>C ENSP00000427049.1:n.306-1028T>C
ENST00000505652.1:c.*169-1028T>C ENSP00000421556.1:n.*169-1028T>C
ENST00000508511.5:n.362-1028T>C
ENST00000512604.1:n.205-1028T>C
ENST00000512621.5:n.333-1028T>C
ENST00000512659.5:c.*32-1028T>C ENSP00000424650.1:n.*32-1028T>C
ENST00000512991.5:n.543-1028T>C
ENST00000626055.2:c.*32-1028T>C ENSP00000487496.1:n.*32-1028T>C
NM_000671.4:c.345-1028T>C MANE Select NP_000662.3:n.345-1028T>C