Canonical Allele Identifier: CA126936
Gene: ALAD HGNC NCBI

Linked Data

ClinVar Variation Id: 16866
ClinVar RCV Id: RCV000018362
dbSNP Id: rs121912983

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113389088C>T , CM000671.2:g.113389088C>T GRCh38
NC_000009.11:g.116151368C>T , CM000671.1:g.116151368C>T GRCh37
NC_000009.10:g.115191189C>T NCBI36
NG_008716.1:g.17251G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000409155.8:c.820G>A MANE Select ENSP00000386284.3:p.Ala274Thr
ENST00000409155.7:c.820G>A ENSP00000386284.3:p.Ala274Thr
ENST00000482847.5:n.1093G>A
NM_000031.5:c.820G>A NP_000022.3:p.Ala274Thr
XM_005251799.1:c.907G>A XP_005251856.1:p.Ala303Thr
XM_011518363.1:c.946G>A XP_011516665.1:p.Ala316Thr
XM_011518364.1:c.847G>A XP_011516666.1:p.Ala283Thr
NM_001003945.2:c.907G>A NP_001003945.1:p.Ala303Thr
NM_001317745.1:c.796G>A NP_001304674.1:p.Ala266Thr
XM_011518364.2:c.847G>A XP_011516666.1:p.Ala283Thr
XM_024447449.1:c.907G>A XP_024303217.1:p.Ala303Thr
NM_000031.6:c.820G>A MANE Select NP_000022.3:p.Ala274Thr
NM_001003945.3:c.907G>A NP_001003945.1:p.Ala303Thr
NM_001317745.2:c.796G>A NP_001304674.1:p.Ala266Thr