Canonical Allele Identifier: CA1479961571
Community Standard Title: NM_000669.5(ADH1C):c.1048A= (p.Ile350=)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99339632T= , CM000666.2:g.99339632T= GRCh38
NC_000004.11:g.100260789T= , CM000666.1:g.100260789T= GRCh37
NC_000004.10:g.100479812T= NCBI36
NG_011718.1:g.18129A=

Transcript Alleles

HGVS Amino-acid Change
NM_000669.5:c.1048A= (ADH1C) MANE Select NP_000660.1:p.Ile350=
ENST00000515683.6:c.1048A= (ADH1C) MANE Select ENSP00000426083.1:p.Ile350=
NM_000669.4:c.1048A= (ADH1C) NP_000660.1:p.Ile350=
NR_133005.1:n.1374A= (ADH1C)
NR_133005.2:n.1075A= (ADH1C)
ENST00000515683.5:c.1048A= (ADH1C) ENSP00000426083.1:p.Ile350=
ENST00000639454.1:c.18+13026A= (ADH1B) ENSP00000491622.1:n.18+13026A=
XM_011531588.1:c.946A= (ADH1C) XP_011529890.1:p.Ile316=
XM_011531589.1:c.928A= (ADH1C) XP_011529891.1:p.Ile310=