Canonical Allele Identifier: CA374562982
Gene: ALAD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113389018T>C , CM000671.2:g.113389018T>C GRCh38
NC_000009.11:g.116151298T>C , CM000671.1:g.116151298T>C GRCh37
NC_000009.10:g.115191119T>C NCBI36
NG_008716.1:g.17321A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409155.8:c.890A>G MANE Select ENSP00000386284.3:p.Lys297Arg
ENST00000409155.7:c.890A>G ENSP00000386284.3:p.Lys297Arg
ENST00000482847.5:n.1163A>G
NM_000031.5:c.890A>G NP_000022.3:p.Lys297Arg
XM_005251799.1:c.977A>G XP_005251856.1:p.Lys326Arg
XM_011518363.1:c.1016A>G XP_011516665.1:p.Lys339Arg
XM_011518364.1:c.917A>G XP_011516666.1:p.Lys306Arg
NM_001003945.2:c.977A>G NP_001003945.1:p.Lys326Arg
NM_001317745.1:c.866A>G NP_001304674.1:p.Lys289Arg
XM_011518364.2:c.917A>G XP_011516666.1:p.Lys306Arg
XM_024447449.1:c.977A>G XP_024303217.1:p.Lys326Arg
NM_000031.6:c.890A>G MANE Select NP_000022.3:p.Lys297Arg
NM_001003945.3:c.977A>G NP_001003945.1:p.Lys326Arg
NM_001317745.2:c.866A>G NP_001304674.1:p.Lys289Arg