Canonical Allele Identifier: CA374562939
Gene: ALAD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113388997A>C , CM000671.2:g.113388997A>C GRCh38
NC_000009.11:g.116151277A>C , CM000671.1:g.116151277A>C GRCh37
NC_000009.10:g.115191098A>C NCBI36
NG_008716.1:g.17342T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000409155.8:c.911T>G MANE Select ENSP00000386284.3:p.Met304Arg
ENST00000409155.7:c.911T>G ENSP00000386284.3:p.Met304Arg
ENST00000482847.5:n.1184T>G
NM_000031.5:c.911T>G NP_000022.3:p.Met304Arg
XM_005251799.1:c.998T>G XP_005251856.1:p.Met333Arg
XM_011518363.1:c.1037T>G XP_011516665.1:p.Met346Arg
XM_011518364.1:c.938T>G XP_011516666.1:p.Met313Arg
NM_001003945.2:c.998T>G NP_001003945.1:p.Met333Arg
NM_001317745.1:c.887T>G NP_001304674.1:p.Met296Arg
XM_011518364.2:c.938T>G XP_011516666.1:p.Met313Arg
XM_024447449.1:c.998T>G XP_024303217.1:p.Met333Arg
NM_000031.6:c.911T>G MANE Select NP_000022.3:p.Met304Arg
NM_001003945.3:c.998T>G NP_001003945.1:p.Met333Arg
NM_001317745.2:c.887T>G NP_001304674.1:p.Met296Arg