Canonical Allele Identifier: CA374563034

Gene: ALAD

Linked Data

• gnomAD v4: 9-113389043-C-T
• MyVariant Identifiers: chr9:g.116151323C>T (hg19) ; chr9:g.113389043C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389043C>T , CM000671.2:g.113389043C>T	GRCh38
NC_000009.11:g.116151323C>T , CM000671.1:g.116151323C>T	GRCh37
NC_000009.10:g.115191144C>T	NCBI36
NG_008716.1:g.17296G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.865G>A MANE Select	ENSP00000386284.3:p.Ala289Thr
ENST00000409155.7:c.865G>A	ENSP00000386284.3:p.Ala289Thr
ENST00000482847.5:n.1138G>A
NM_000031.5:c.865G>A	NP_000022.3:p.Ala289Thr
XM_005251799.1:c.952G>A	XP_005251856.1:p.Ala318Thr
XM_011518363.1:c.991G>A	XP_011516665.1:p.Ala331Thr
XM_011518364.1:c.892G>A	XP_011516666.1:p.Ala298Thr
NM_001003945.2:c.952G>A	NP_001003945.1:p.Ala318Thr
NM_001317745.1:c.841G>A	NP_001304674.1:p.Ala281Thr
XM_011518364.2:c.892G>A	XP_011516666.1:p.Ala298Thr
XM_024447449.1:c.952G>A	XP_024303217.1:p.Ala318Thr
NM_000031.6:c.865G>A MANE Select	NP_000022.3:p.Ala289Thr
NM_001003945.3:c.952G>A	NP_001003945.1:p.Ala318Thr
NM_001317745.2:c.841G>A	NP_001304674.1:p.Ala281Thr