Canonical Allele Identifier: CA357489313

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99342814A>T , CM000666.2:g.99342814A>T GRCh38
NC_000004.11:g.100263971A>T , CM000666.1:g.100263971A>T GRCh37
NC_000004.10:g.100482994A>T NCBI36
NG_011718.1:g.14947T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000515683.6:c.809T>A (ADH1C) MANE Select ENSP00000426083.1:p.Ile270Asn
ENST00000639454.1:c.18+9844T>A (ADH1B) ENSP00000491622.1:n.18+9844T>A
ENST00000515683.5:c.809T>A (ADH1C) ENSP00000426083.1:p.Ile270Asn
NM_000669.4:c.809T>A (ADH1C) NP_000660.1:p.Ile270Asn
NR_133005.1:n.1154+25T>A (ADH1C)
XM_011531588.1:c.707T>A (ADH1C) XP_011529890.1:p.Ile236Asn
XM_011531589.1:c.689T>A (ADH1C) XP_011529891.1:p.Ile230Asn
NM_000669.5:c.809T>A (ADH1C) MANE Select NP_000660.1:p.Ile270Asn
NR_133005.2:n.855+25T>A (ADH1C)