Canonical Allele Identifier: CA1873365614
Community Standard Title: NM_000031.6(ALAD):c.823G= (p.Val275=)
Gene: ALAD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113389085C= , CM000671.2:g.113389085C= GRCh38
NC_000009.11:g.116151365C= , CM000671.1:g.116151365C= GRCh37
NC_000009.10:g.115191186C= NCBI36
NG_008716.1:g.17254G=

Transcript Alleles

HGVS Amino-acid Change
NM_000031.6:c.823G= MANE Select NP_000022.3:p.Val275=
ENST00000409155.8:c.823G= MANE Select ENSP00000386284.3:p.Val275=
NM_000031.5:c.823G= NP_000022.3:p.Val275=
NM_001003945.2:c.910G= NP_001003945.1:p.Val304=
NM_001003945.3:c.910G= NP_001003945.1:p.Val304=
NM_001317745.1:c.799G= NP_001304674.1:p.Val267=
NM_001317745.2:c.799G= NP_001304674.1:p.Val267=
ENST00000409155.7:c.823G= ENSP00000386284.3:p.Val275=
ENST00000482847.5:n.1096G=
XM_005251799.1:c.910G= XP_005251856.1:p.Val304=
XM_011518363.1:c.949G= XP_011516665.1:p.Val317=
XM_011518364.1:c.850G= XP_011516666.1:p.Val284=
XM_011518364.2:c.850G= XP_011516666.1:p.Val284=
XM_024447449.1:c.910G= XP_024303217.1:p.Val304=