Canonical Allele Identifier: CA374562996
Gene: ALAD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113389025C>A , CM000671.2:g.113389025C>A GRCh38
NC_000009.11:g.116151305C>A , CM000671.1:g.116151305C>A GRCh37
NC_000009.10:g.115191126C>A NCBI36
NG_008716.1:g.17314G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409155.8:c.883G>T MANE Select ENSP00000386284.3:p.Asp295Tyr
ENST00000409155.7:c.883G>T ENSP00000386284.3:p.Asp295Tyr
ENST00000482847.5:n.1156G>T
NM_000031.5:c.883G>T NP_000022.3:p.Asp295Tyr
XM_005251799.1:c.970G>T XP_005251856.1:p.Asp324Tyr
XM_011518363.1:c.1009G>T XP_011516665.1:p.Asp337Tyr
XM_011518364.1:c.910G>T XP_011516666.1:p.Asp304Tyr
NM_001003945.2:c.970G>T NP_001003945.1:p.Asp324Tyr
NM_001317745.1:c.859G>T NP_001304674.1:p.Asp287Tyr
XM_011518364.2:c.910G>T XP_011516666.1:p.Asp304Tyr
XM_024447449.1:c.970G>T XP_024303217.1:p.Asp324Tyr
NM_000031.6:c.883G>T MANE Select NP_000022.3:p.Asp295Tyr
NM_001003945.3:c.970G>T NP_001003945.1:p.Asp324Tyr
NM_001317745.2:c.859G>T NP_001304674.1:p.Asp287Tyr