Canonical Allele Identifier: CA374562907
Gene: ALAD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113388981T>A , CM000671.2:g.113388981T>A GRCh38
NC_000009.11:g.116151261T>A , CM000671.1:g.116151261T>A GRCh37
NC_000009.10:g.115191082T>A NCBI36
NG_008716.1:g.17358A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409155.8:c.927A>T MANE Select ENSP00000386284.3:p.Arg309Ser
ENST00000409155.7:c.927A>T ENSP00000386284.3:p.Arg309Ser
ENST00000482847.5:n.1200A>T
NM_000031.5:c.927A>T NP_000022.3:p.Arg309Ser
XM_005251799.1:c.1014A>T XP_005251856.1:p.Arg338Ser
XM_011518363.1:c.1053A>T XP_011516665.1:p.Arg351Ser
XM_011518364.1:c.954A>T XP_011516666.1:p.Arg318Ser
NM_001003945.2:c.1014A>T NP_001003945.1:p.Arg338Ser
NM_001317745.1:c.903A>T NP_001304674.1:p.Arg301Ser
XM_011518364.2:c.954A>T XP_011516666.1:p.Arg318Ser
XM_024447449.1:c.1014A>T XP_024303217.1:p.Arg338Ser
NM_000031.6:c.927A>T MANE Select NP_000022.3:p.Arg309Ser
NM_001003945.3:c.1014A>T NP_001003945.1:p.Arg338Ser
NM_001317745.2:c.903A>T NP_001304674.1:p.Arg301Ser