Canonical Allele Identifier: CA357489355

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99342821C>G , CM000666.2:g.99342821C>G GRCh38
NC_000004.11:g.100263978C>G , CM000666.1:g.100263978C>G GRCh37
NC_000004.10:g.100483001C>G NCBI36
NG_011718.1:g.14940G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000515683.6:c.802G>C (ADH1C) MANE Select ENSP00000426083.1:p.Glu268Gln
ENST00000639454.1:c.18+9837G>C (ADH1B) ENSP00000491622.1:n.18+9837G>C
ENST00000515683.5:c.802G>C (ADH1C) ENSP00000426083.1:p.Glu268Gln
NM_000669.4:c.802G>C (ADH1C) NP_000660.1:p.Glu268Gln
NR_133005.1:n.1154+18G>C (ADH1C)
XM_011531588.1:c.700G>C (ADH1C) XP_011529890.1:p.Glu234Gln
XM_011531589.1:c.682G>C (ADH1C) XP_011529891.1:p.Glu228Gln
NM_000669.5:c.802G>C (ADH1C) MANE Select NP_000660.1:p.Glu268Gln
NR_133005.2:n.855+18G>C (ADH1C)