Canonical Allele Identifier: CA3020230
Community Standard Title: NM_000669.5(ADH1C):c.1054C>A (p.Pro352Thr)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99339626G>T , CM000666.2:g.99339626G>T GRCh38
NC_000004.11:g.100260783G>T , CM000666.1:g.100260783G>T GRCh37
NC_000004.10:g.100479806G>T NCBI36
NG_011718.1:g.18135C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000669.5:c.1054C>A (ADH1C) MANE Select NP_000660.1:p.Pro352Thr
ENST00000515683.6:c.1054C>A (ADH1C) MANE Select ENSP00000426083.1:p.Pro352Thr
NM_000669.4:c.1054C>A (ADH1C) NP_000660.1:p.Pro352Thr
NR_133005.1:n.1380C>A (ADH1C)
NR_133005.2:n.1081C>A (ADH1C)
ENST00000515683.5:c.1054C>A (ADH1C) ENSP00000426083.1:p.Pro352Thr
ENST00000639454.1:c.18+13032C>A (ADH1B) ENSP00000491622.1:n.18+13032C>A
XM_011531588.1:c.952C>A (ADH1C) XP_011529890.1:p.Pro318Thr
XM_011531589.1:c.934C>A (ADH1C) XP_011529891.1:p.Pro312Thr