Canonical Allele Identifier: CA374562940
Gene: ALAD HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000409155.8:c.911T>A MANE Select ENSP00000386284.3:p.Met304Lys
ENST00000409155.7:c.911T>A ENSP00000386284.3:p.Met304Lys
ENST00000482847.5:n.1184T>A
NM_000031.5:c.911T>A NP_000022.3:p.Met304Lys
XM_005251799.1:c.998T>A XP_005251856.1:p.Met333Lys
XM_011518363.1:c.1037T>A XP_011516665.1:p.Met346Lys
XM_011518364.1:c.938T>A XP_011516666.1:p.Met313Lys
NM_001003945.2:c.998T>A NP_001003945.1:p.Met333Lys
NM_001317745.1:c.887T>A NP_001304674.1:p.Met296Lys
XM_011518364.2:c.938T>A XP_011516666.1:p.Met313Lys
XM_024447449.1:c.998T>A XP_024303217.1:p.Met333Lys
NM_000031.6:c.911T>A MANE Select NP_000022.3:p.Met304Lys
NM_001003945.3:c.998T>A NP_001003945.1:p.Met333Lys
NM_001317745.2:c.887T>A NP_001304674.1:p.Met296Lys