Canonical Allele Identifier: CA374563047
Gene: ALAD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113389049G>T , CM000671.2:g.113389049G>T GRCh38
NC_000009.11:g.116151329G>T , CM000671.1:g.116151329G>T GRCh37
NC_000009.10:g.115191150G>T NCBI36
NG_008716.1:g.17290C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409155.8:c.859C>A MANE Select ENSP00000386284.3:p.His287Asn
ENST00000409155.7:c.859C>A ENSP00000386284.3:p.His287Asn
ENST00000482847.5:n.1132C>A
NM_000031.5:c.859C>A NP_000022.3:p.His287Asn
XM_005251799.1:c.946C>A XP_005251856.1:p.His316Asn
XM_011518363.1:c.985C>A XP_011516665.1:p.His329Asn
XM_011518364.1:c.886C>A XP_011516666.1:p.His296Asn
NM_001003945.2:c.946C>A NP_001003945.1:p.His316Asn
NM_001317745.1:c.835C>A NP_001304674.1:p.His279Asn
XM_011518364.2:c.886C>A XP_011516666.1:p.His296Asn
XM_024447449.1:c.946C>A XP_024303217.1:p.His316Asn
NM_000031.6:c.859C>A MANE Select NP_000022.3:p.His287Asn
NM_001003945.3:c.946C>A NP_001003945.1:p.His316Asn
NM_001317745.2:c.835C>A NP_001304674.1:p.His279Asn