Canonical Allele Identifier: CA374562984
Gene: ALAD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113389019T>A , CM000671.2:g.113389019T>A GRCh38
NC_000009.11:g.116151299T>A , CM000671.1:g.116151299T>A GRCh37
NC_000009.10:g.115191120T>A NCBI36
NG_008716.1:g.17320A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409155.8:c.889A>T MANE Select ENSP00000386284.3:p.Lys297Ter
ENST00000409155.7:c.889A>T ENSP00000386284.3:p.Lys297Ter
ENST00000482847.5:n.1162A>T
NM_000031.5:c.889A>T NP_000022.3:p.Lys297Ter
XM_005251799.1:c.976A>T XP_005251856.1:p.Lys326Ter
XM_011518363.1:c.1015A>T XP_011516665.1:p.Lys339Ter
XM_011518364.1:c.916A>T XP_011516666.1:p.Lys306Ter
NM_001003945.2:c.976A>T NP_001003945.1:p.Lys326Ter
NM_001317745.1:c.865A>T NP_001304674.1:p.Lys289Ter
XM_011518364.2:c.916A>T XP_011516666.1:p.Lys306Ter
XM_024447449.1:c.976A>T XP_024303217.1:p.Lys326Ter
NM_000031.6:c.889A>T MANE Select NP_000022.3:p.Lys297Ter
NM_001003945.3:c.976A>T NP_001003945.1:p.Lys326Ter
NM_001317745.2:c.865A>T NP_001304674.1:p.Lys289Ter