Canonical Allele Identifier: CA374562969
Gene: ALAD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113389012G>T , CM000671.2:g.113389012G>T GRCh38
NC_000009.11:g.116151292G>T , CM000671.1:g.116151292G>T GRCh37
NC_000009.10:g.115191113G>T NCBI36
NG_008716.1:g.17327C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409155.8:c.896C>A MANE Select ENSP00000386284.3:p.Ala299Asp
ENST00000409155.7:c.896C>A ENSP00000386284.3:p.Ala299Asp
ENST00000482847.5:n.1169C>A
NM_000031.5:c.896C>A NP_000022.3:p.Ala299Asp
XM_005251799.1:c.983C>A XP_005251856.1:p.Ala328Asp
XM_011518363.1:c.1022C>A XP_011516665.1:p.Ala341Asp
XM_011518364.1:c.923C>A XP_011516666.1:p.Ala308Asp
NM_001003945.2:c.983C>A NP_001003945.1:p.Ala328Asp
NM_001317745.1:c.872C>A NP_001304674.1:p.Ala291Asp
XM_011518364.2:c.923C>A XP_011516666.1:p.Ala308Asp
XM_024447449.1:c.983C>A XP_024303217.1:p.Ala328Asp
NM_000031.6:c.896C>A MANE Select NP_000022.3:p.Ala299Asp
NM_001003945.3:c.983C>A NP_001003945.1:p.Ala328Asp
NM_001317745.2:c.872C>A NP_001304674.1:p.Ala291Asp