Canonical Allele Identifier: CA374565155
Gene: ALAD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113391595G>T , CM000671.2:g.113391595G>T GRCh38
NC_000009.11:g.116153875G>T , CM000671.1:g.116153875G>T GRCh37
NC_000009.10:g.115193696G>T NCBI36
NG_008716.1:g.14744C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409155.8:c.193C>A MANE Select ENSP00000386284.3:p.Leu65Met
ENST00000409155.7:c.193C>A ENSP00000386284.3:p.Leu65Met
ENST00000448137.5:c.220C>A ENSP00000392748.1:p.Leu74Met
ENST00000464749.5:n.258-662C>A
ENST00000468504.5:n.315C>A
ENST00000482001.1:n.466C>A
ENST00000482847.5:n.466C>A
NM_000031.5:c.193C>A NP_000022.3:p.Leu65Met
XM_005251799.1:c.280C>A XP_005251856.1:p.Leu94Met
XM_011518363.1:c.319C>A XP_011516665.1:p.Leu107Met
XM_011518364.1:c.220C>A XP_011516666.1:p.Leu74Met
NM_001003945.2:c.280C>A NP_001003945.1:p.Leu94Met
NM_001317745.1:c.169C>A NP_001304674.1:p.Leu57Met
XM_011518364.2:c.220C>A XP_011516666.1:p.Leu74Met
XM_024447449.1:c.280C>A XP_024303217.1:p.Leu94Met
XR_002956764.1:n.693C>A
NM_000031.6:c.193C>A MANE Select NP_000022.3:p.Leu65Met
NM_001003945.3:c.280C>A NP_001003945.1:p.Leu94Met
NM_001317745.2:c.169C>A NP_001304674.1:p.Leu57Met