Canonical Allele Identifier: CA553102736

Linked Data

dbSNP Id: rs200798677
gnomAD v3: 4-99337068-G-C
gnomAD v4: 4-99337068-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99337068G>C , CM000666.2:g.99337068G>C GRCh38
NC_000004.11:g.100258225G>C , CM000666.1:g.100258225G>C GRCh37
NC_000004.10:g.100477248G>C NCBI36
NG_011718.1:g.20693C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000515683.6:c.1104-292C>G (ADH1C) MANE Select ENSP00000426083.1:n.1104-292C>G
ENST00000639454.1:c.18+15590C>G (ADH1B) ENSP00000491622.1:n.18+15590C>G
ENST00000515683.5:c.1104-292C>G (ADH1C) ENSP00000426083.1:n.1104-292C>G
NM_000669.4:c.1104-292C>G (ADH1C) NP_000660.1:n.1104-292C>G
NR_133005.1:n.1430-292C>G (ADH1C)
XM_011531588.1:c.1002-292C>G (ADH1C) XP_011529890.1:n.1002-292C>G
XM_011531589.1:c.984-292C>G (ADH1C) XP_011529891.1:n.984-292C>G
NM_000669.5:c.1104-292C>G (ADH1C) MANE Select NP_000660.1:n.1104-292C>G
NR_133005.2:n.1131-292C>G (ADH1C)