Canonical Allele Identifier: CA374563040
Gene: ALAD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113389047A>C , CM000671.2:g.113389047A>C GRCh38
NC_000009.11:g.116151327A>C , CM000671.1:g.116151327A>C GRCh37
NC_000009.10:g.115191148A>C NCBI36
NG_008716.1:g.17292T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409155.8:c.861T>G MANE Select ENSP00000386284.3:p.His287Gln
ENST00000409155.7:c.861T>G ENSP00000386284.3:p.His287Gln
ENST00000482847.5:n.1134T>G
NM_000031.5:c.861T>G NP_000022.3:p.His287Gln
XM_005251799.1:c.948T>G XP_005251856.1:p.His316Gln
XM_011518363.1:c.987T>G XP_011516665.1:p.His329Gln
XM_011518364.1:c.888T>G XP_011516666.1:p.His296Gln
NM_001003945.2:c.948T>G NP_001003945.1:p.His316Gln
NM_001317745.1:c.837T>G NP_001304674.1:p.His279Gln
XM_011518364.2:c.888T>G XP_011516666.1:p.His296Gln
XM_024447449.1:c.948T>G XP_024303217.1:p.His316Gln
NM_000031.6:c.861T>G MANE Select NP_000022.3:p.His287Gln
NM_001003945.3:c.948T>G NP_001003945.1:p.His316Gln
NM_001317745.2:c.837T>G NP_001304674.1:p.His279Gln