Canonical Allele Identifier: CA466755026

Gene: ALAD

Linked Data

• MyVariant Identifiers: chr9:g.116151300G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389020G>A , CM000671.2:g.113389020G>A	GRCh38
NC_000009.11:g.116151300G>A , CM000671.1:g.116151300G>A	GRCh37
NC_000009.10:g.115191121G>A	NCBI36
NG_008716.1:g.17319C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.888C>T MANE Select	ENSP00000386284.3:p.Leu296=
ENST00000409155.7:c.888C>T	ENSP00000386284.3:p.Leu296=
ENST00000482847.5:n.1161C>T
NM_000031.5:c.888C>T	NP_000022.3:p.Leu296=
XM_005251799.1:c.975C>T	XP_005251856.1:p.Leu325=
XM_011518363.1:c.1014C>T	XP_011516665.1:p.Leu338=
XM_011518364.1:c.915C>T	XP_011516666.1:p.Leu305=
NM_001003945.2:c.975C>T	NP_001003945.1:p.Leu325=
NM_001317745.1:c.864C>T	NP_001304674.1:p.Leu288=
XM_011518364.2:c.915C>T	XP_011516666.1:p.Leu305=
XM_024447449.1:c.975C>T	XP_024303217.1:p.Leu325=
NM_000031.6:c.888C>T MANE Select	NP_000022.3:p.Leu296=
NM_001003945.3:c.975C>T	NP_001003945.1:p.Leu325=
NM_001317745.2:c.864C>T	NP_001304674.1:p.Leu288=