Canonical Allele Identifier: CA374563003
Gene: ALAD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113389027A>T , CM000671.2:g.113389027A>T GRCh38
NC_000009.11:g.116151307A>T , CM000671.1:g.116151307A>T GRCh37
NC_000009.10:g.115191128A>T NCBI36
NG_008716.1:g.17312T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409155.8:c.881T>A MANE Select ENSP00000386284.3:p.Phe294Tyr
ENST00000409155.7:c.881T>A ENSP00000386284.3:p.Phe294Tyr
ENST00000482847.5:n.1154T>A
NM_000031.5:c.881T>A NP_000022.3:p.Phe294Tyr
XM_005251799.1:c.968T>A XP_005251856.1:p.Phe323Tyr
XM_011518363.1:c.1007T>A XP_011516665.1:p.Phe336Tyr
XM_011518364.1:c.908T>A XP_011516666.1:p.Phe303Tyr
NM_001003945.2:c.968T>A NP_001003945.1:p.Phe323Tyr
NM_001317745.1:c.857T>A NP_001304674.1:p.Phe286Tyr
XM_011518364.2:c.908T>A XP_011516666.1:p.Phe303Tyr
XM_024447449.1:c.968T>A XP_024303217.1:p.Phe323Tyr
NM_000031.6:c.881T>A MANE Select NP_000022.3:p.Phe294Tyr
NM_001003945.3:c.968T>A NP_001003945.1:p.Phe323Tyr
NM_001317745.2:c.857T>A NP_001304674.1:p.Phe286Tyr