Canonical Allele Identifier: CA440304520

Linked Data

gnomAD v4: 4-99342809-G-T
MyVariant Identifiers: chr4:g.100263966G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99342809G>T , CM000666.2:g.99342809G>T GRCh38
NC_000004.11:g.100263966G>T , CM000666.1:g.100263966G>T GRCh37
NC_000004.10:g.100482989G>T NCBI36
NG_011718.1:g.14952C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000515683.6:c.814C>A (ADH1C) MANE Select ENSP00000426083.1:p.Arg272=
ENST00000639454.1:c.18+9849C>A (ADH1B) ENSP00000491622.1:n.18+9849C>A
ENST00000515683.5:c.814C>A (ADH1C) ENSP00000426083.1:p.Arg272=
NM_000669.4:c.814C>A (ADH1C) NP_000660.1:p.Arg272=
NR_133005.1:n.1154+30C>A (ADH1C)
XM_011531588.1:c.712C>A (ADH1C) XP_011529890.1:p.Arg238=
XM_011531589.1:c.694C>A (ADH1C) XP_011529891.1:p.Arg232=
NM_000669.5:c.814C>A (ADH1C) MANE Select NP_000660.1:p.Arg272=
NR_133005.2:n.855+30C>A (ADH1C)