Canonical Allele Identifier: CA2671522430

Linked Data

gnomAD v4: 4-99342718-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99342718A>C , CM000666.2:g.99342718A>C GRCh38
NC_000004.11:g.100263875A>C , CM000666.1:g.100263875A>C GRCh37
NC_000004.10:g.100482898A>C NCBI36
NG_011718.1:g.15043T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000515683.6:c.828+77T>G (ADH1C) MANE Select ENSP00000426083.1:n.828+77T>G
ENST00000639454.1:c.18+9940T>G (ADH1B) ENSP00000491622.1:n.18+9940T>G
ENST00000515683.5:c.828+77T>G (ADH1C) ENSP00000426083.1:n.828+77T>G
NM_000669.4:c.828+77T>G (ADH1C) NP_000660.1:n.828+77T>G
NR_133005.1:n.1154+121T>G (ADH1C)
XM_011531588.1:c.726+77T>G (ADH1C) XP_011529890.1:n.726+77T>G
XM_011531589.1:c.708+77T>G (ADH1C) XP_011529891.1:n.708+77T>G
NM_000669.5:c.828+77T>G (ADH1C) MANE Select NP_000660.1:n.828+77T>G
NR_133005.2:n.855+121T>G (ADH1C)