Canonical Allele Identifier: CA374562944
Gene: ALAD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113389000G>A , CM000671.2:g.113389000G>A GRCh38
NC_000009.11:g.116151280G>A , CM000671.1:g.116151280G>A GRCh37
NC_000009.10:g.115191101G>A NCBI36
NG_008716.1:g.17339C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000409155.8:c.908C>T MANE Select ENSP00000386284.3:p.Ala303Val
ENST00000409155.7:c.908C>T ENSP00000386284.3:p.Ala303Val
ENST00000482847.5:n.1181C>T
NM_000031.5:c.908C>T NP_000022.3:p.Ala303Val
XM_005251799.1:c.995C>T XP_005251856.1:p.Ala332Val
XM_011518363.1:c.1034C>T XP_011516665.1:p.Ala345Val
XM_011518364.1:c.935C>T XP_011516666.1:p.Ala312Val
NM_001003945.2:c.995C>T NP_001003945.1:p.Ala332Val
NM_001317745.1:c.884C>T NP_001304674.1:p.Ala295Val
XM_011518364.2:c.935C>T XP_011516666.1:p.Ala312Val
XM_024447449.1:c.995C>T XP_024303217.1:p.Ala332Val
NM_000031.6:c.908C>T MANE Select NP_000022.3:p.Ala303Val
NM_001003945.3:c.995C>T NP_001003945.1:p.Ala332Val
NM_001317745.2:c.884C>T NP_001304674.1:p.Ala295Val