Canonical Allele Identifier: CA374565191
Gene: ALAD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113391612T>C , CM000671.2:g.113391612T>C GRCh38
NC_000009.11:g.116153892T>C , CM000671.1:g.116153892T>C GRCh37
NC_000009.10:g.115193713T>C NCBI36
NG_008716.1:g.14727A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409155.8:c.176A>G MANE Select ENSP00000386284.3:p.Lys59Arg
ENST00000409155.7:c.176A>G ENSP00000386284.3:p.Lys59Arg
ENST00000448137.5:c.203A>G ENSP00000392748.1:p.Lys68Arg
ENST00000464749.5:n.258-679A>G
ENST00000468504.5:n.298A>G
ENST00000482001.1:n.449A>G
ENST00000482847.5:n.449A>G
NM_000031.5:c.176A>G NP_000022.3:p.Lys59Arg
XM_005251799.1:c.263A>G XP_005251856.1:p.Lys88Arg
XM_011518363.1:c.302A>G XP_011516665.1:p.Lys101Arg
XM_011518364.1:c.203A>G XP_011516666.1:p.Lys68Arg
NM_001003945.2:c.263A>G NP_001003945.1:p.Lys88Arg
NM_001317745.1:c.152A>G NP_001304674.1:p.Lys51Arg
XM_011518364.2:c.203A>G XP_011516666.1:p.Lys68Arg
XM_024447449.1:c.263A>G XP_024303217.1:p.Lys88Arg
XR_002956764.1:n.676A>G
NM_000031.6:c.176A>G MANE Select NP_000022.3:p.Lys59Arg
NM_001003945.3:c.263A>G NP_001003945.1:p.Lys88Arg
NM_001317745.2:c.152A>G NP_001304674.1:p.Lys51Arg