Canonical Allele Identifier: CA2671520125
Gene: ADH1B HGNC NCBI

Linked Data

gnomAD v4: 4-99318036-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99318036A>C , CM000666.2:g.99318036A>C GRCh38
NC_000004.11:g.100239193A>C , CM000666.1:g.100239193A>C GRCh37
NC_000004.10:g.100458216A>C NCBI36
NG_011435.1:g.8380T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.259+10T>G MANE Select ENSP00000306606.8:n.259+10T>G
ENST00000639454.1:c.259+10T>G ENSP00000491622.1:n.259+10T>G
ENST00000305046.12:c.259+10T>G ENSP00000306606.8:n.259+10T>G
ENST00000504498.1:n.323T>G
ENST00000506651.5:c.139+10T>G ENSP00000425998.2:n.139+10T>G
ENST00000515694.4:n.2354+10T>G
ENST00000625860.2:c.139+10T>G ENSP00000486614.1:n.139+10T>G
ENST00000632775.1:n.832T>G
NM_000668.5:c.259+10T>G NP_000659.2:n.259+10T>G
NM_001286650.1:c.139+10T>G NP_001273579.1:n.139+10T>G
NM_000668.6:c.259+10T>G MANE Select NP_000659.2:n.259+10T>G
NM_001286650.2:c.139+10T>G NP_001273579.1:n.139+10T>G