Canonical Allele Identifier: CA374564954
Gene: ALAD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113391537C>A , CM000671.2:g.113391537C>A GRCh38
NC_000009.11:g.116153817C>A , CM000671.1:g.116153817C>A GRCh37
NC_000009.10:g.115193638C>A NCBI36
NG_008716.1:g.14802G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000409155.8:c.251G>T MANE Select ENSP00000386284.3:p.Arg84Ile
ENST00000409155.7:c.251G>T ENSP00000386284.3:p.Arg84Ile
ENST00000448137.5:c.278G>T ENSP00000392748.1:p.Arg93Ile
ENST00000464749.5:n.258-604G>T
ENST00000468504.5:n.373G>T
ENST00000482001.1:n.524G>T
ENST00000482847.5:n.524G>T
NM_000031.5:c.251G>T NP_000022.3:p.Arg84Ile
XM_005251799.1:c.338G>T XP_005251856.1:p.Arg113Ile
XM_011518363.1:c.377G>T XP_011516665.1:p.Arg126Ile
XM_011518364.1:c.278G>T XP_011516666.1:p.Arg93Ile
NM_001003945.2:c.338G>T NP_001003945.1:p.Arg113Ile
NM_001317745.1:c.227G>T NP_001304674.1:p.Arg76Ile
XM_011518364.2:c.278G>T XP_011516666.1:p.Arg93Ile
XM_024447449.1:c.338G>T XP_024303217.1:p.Arg113Ile
XR_002956764.1:n.751G>T
NM_000031.6:c.251G>T MANE Select NP_000022.3:p.Arg84Ile
NM_001003945.3:c.338G>T NP_001003945.1:p.Arg113Ile
NM_001317745.2:c.227G>T NP_001304674.1:p.Arg76Ile