Canonical Allele Identifier: CA374562910
Gene: ALAD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113388982C>G , CM000671.2:g.113388982C>G GRCh38
NC_000009.11:g.116151262C>G , CM000671.1:g.116151262C>G GRCh37
NC_000009.10:g.115191083C>G NCBI36
NG_008716.1:g.17357G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409155.8:c.926G>C MANE Select ENSP00000386284.3:p.Arg309Thr
ENST00000409155.7:c.926G>C ENSP00000386284.3:p.Arg309Thr
ENST00000482847.5:n.1199G>C
NM_000031.5:c.926G>C NP_000022.3:p.Arg309Thr
XM_005251799.1:c.1013G>C XP_005251856.1:p.Arg338Thr
XM_011518363.1:c.1052G>C XP_011516665.1:p.Arg351Thr
XM_011518364.1:c.953G>C XP_011516666.1:p.Arg318Thr
NM_001003945.2:c.1013G>C NP_001003945.1:p.Arg338Thr
NM_001317745.1:c.902G>C NP_001304674.1:p.Arg301Thr
XM_011518364.2:c.953G>C XP_011516666.1:p.Arg318Thr
XM_024447449.1:c.1013G>C XP_024303217.1:p.Arg338Thr
NM_000031.6:c.926G>C MANE Select NP_000022.3:p.Arg309Thr
NM_001003945.3:c.1013G>C NP_001003945.1:p.Arg338Thr
NM_001317745.2:c.902G>C NP_001304674.1:p.Arg301Thr