Canonical Allele Identifier: CA374563145
Gene: ALAD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113389096A>C , CM000671.2:g.113389096A>C GRCh38
NC_000009.11:g.116151376A>C , CM000671.1:g.116151376A>C GRCh37
NC_000009.10:g.115191197A>C NCBI36
NG_008716.1:g.17243T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000409155.8:c.812T>G MANE Select ENSP00000386284.3:p.Leu271Arg
ENST00000409155.7:c.812T>G ENSP00000386284.3:p.Leu271Arg
ENST00000482847.5:n.1085T>G
NM_000031.5:c.812T>G NP_000022.3:p.Leu271Arg
XM_005251799.1:c.899T>G XP_005251856.1:p.Leu300Arg
XM_011518363.1:c.938T>G XP_011516665.1:p.Leu313Arg
XM_011518364.1:c.839T>G XP_011516666.1:p.Leu280Arg
NM_001003945.2:c.899T>G NP_001003945.1:p.Leu300Arg
NM_001317745.1:c.788T>G NP_001304674.1:p.Leu263Arg
XM_011518364.2:c.839T>G XP_011516666.1:p.Leu280Arg
XM_024447449.1:c.899T>G XP_024303217.1:p.Leu300Arg
NM_000031.6:c.812T>G MANE Select NP_000022.3:p.Leu271Arg
NM_001003945.3:c.899T>G NP_001003945.1:p.Leu300Arg
NM_001317745.2:c.788T>G NP_001304674.1:p.Leu263Arg