Canonical Allele Identifier: CA374562993
Gene: ALAD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113389024T>A , CM000671.2:g.113389024T>A GRCh38
NC_000009.11:g.116151304T>A , CM000671.1:g.116151304T>A GRCh37
NC_000009.10:g.115191125T>A NCBI36
NG_008716.1:g.17315A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409155.8:c.884A>T MANE Select ENSP00000386284.3:p.Asp295Val
ENST00000409155.7:c.884A>T ENSP00000386284.3:p.Asp295Val
ENST00000482847.5:n.1157A>T
NM_000031.5:c.884A>T NP_000022.3:p.Asp295Val
XM_005251799.1:c.971A>T XP_005251856.1:p.Asp324Val
XM_011518363.1:c.1010A>T XP_011516665.1:p.Asp337Val
XM_011518364.1:c.911A>T XP_011516666.1:p.Asp304Val
NM_001003945.2:c.971A>T NP_001003945.1:p.Asp324Val
NM_001317745.1:c.860A>T NP_001304674.1:p.Asp287Val
XM_011518364.2:c.911A>T XP_011516666.1:p.Asp304Val
XM_024447449.1:c.971A>T XP_024303217.1:p.Asp324Val
NM_000031.6:c.884A>T MANE Select NP_000022.3:p.Asp295Val
NM_001003945.3:c.971A>T NP_001003945.1:p.Asp324Val
NM_001317745.2:c.860A>T NP_001304674.1:p.Asp287Val