Canonical Allele Identifier: CA15317997
Gene: ADH5 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.99071843T>C
GRCh37 chr4:g.99992994T>C
gnomAD v2:
4:99992994 T / C
gnomAD v3:
4:99071843 T / C
gnomAD v4:
chr4-99071843-T-C
Joint Max Group AF 0.1374291 (AFR)
Genomes Max Group AF 0.1374241 (AFR)
Exomes Max Group AF 0.04088369 (AFR)
dbSNP:
6827292
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99071843T>C , CM000666.2:g.99071843T>C GRCh38
NC_000004.11:g.99992994T>C , CM000666.1:g.99992994T>C GRCh37
NC_000004.10:g.100212017T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296412.14:c.*574A>G MANE Select ENSP00000296412.8:n.*574A>G
ENST00000296412.13:c.*574A>G ENSP00000296412.8:n.*574A>G
ENST00000296412.12:c.*574A>G ENSP00000296412.8:n.*574A>G
NM_000671.4:c.*574A>G MANE Select NP_000662.3:n.*574A>G
Search 100 bp 5'
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