Canonical Allele Identifier: CA1873365817
Community Standard Title: NM_000031.6(ALAD):c.718C= (p.Arg240=)
Gene: ALAD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113389521G= , CM000671.2:g.113389521G= GRCh38
NC_000009.11:g.116151801G= , CM000671.1:g.116151801G= GRCh37
NC_000009.10:g.115191622G= NCBI36
NG_008716.1:g.16818C=

Transcript Alleles

HGVS Amino-acid Change
NM_000031.6:c.718C= MANE Select NP_000022.3:p.Arg240=
ENST00000409155.8:c.718C= MANE Select ENSP00000386284.3:p.Arg240=
NM_000031.5:c.718C= NP_000022.3:p.Arg240=
NM_001003945.2:c.805C= NP_001003945.1:p.Arg269=
NM_001003945.3:c.805C= NP_001003945.1:p.Arg269=
NM_001317745.1:c.694C= NP_001304674.1:p.Arg232=
NM_001317745.2:c.694C= NP_001304674.1:p.Arg232=
ENST00000409155.7:c.718C= ENSP00000386284.3:p.Arg240=
ENST00000482847.5:n.991C=
XM_005251799.1:c.805C= XP_005251856.1:p.Arg269=
XM_011518363.1:c.844C= XP_011516665.1:p.Arg282=
XM_011518364.1:c.745C= XP_011516666.1:p.Arg249=
XM_011518364.2:c.745C= XP_011516666.1:p.Arg249=
XM_024447449.1:c.805C= XP_024303217.1:p.Arg269=