Canonical Allele Identifier: CA374562912
Gene: ALAD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113388983T>A , CM000671.2:g.113388983T>A GRCh38
NC_000009.11:g.116151263T>A , CM000671.1:g.116151263T>A GRCh37
NC_000009.10:g.115191084T>A NCBI36
NG_008716.1:g.17356A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409155.8:c.925A>T MANE Select ENSP00000386284.3:p.Arg309Ter
ENST00000409155.7:c.925A>T ENSP00000386284.3:p.Arg309Ter
ENST00000482847.5:n.1198A>T
NM_000031.5:c.925A>T NP_000022.3:p.Arg309Ter
XM_005251799.1:c.1012A>T XP_005251856.1:p.Arg338Ter
XM_011518363.1:c.1051A>T XP_011516665.1:p.Arg351Ter
XM_011518364.1:c.952A>T XP_011516666.1:p.Arg318Ter
NM_001003945.2:c.1012A>T NP_001003945.1:p.Arg338Ter
NM_001317745.1:c.901A>T NP_001304674.1:p.Arg301Ter
XM_011518364.2:c.952A>T XP_011516666.1:p.Arg318Ter
XM_024447449.1:c.1012A>T XP_024303217.1:p.Arg338Ter
NM_000031.6:c.925A>T MANE Select NP_000022.3:p.Arg309Ter
NM_001003945.3:c.1012A>T NP_001003945.1:p.Arg338Ter
NM_001317745.2:c.901A>T NP_001304674.1:p.Arg301Ter