Canonical Allele Identifier: CA374563007

Gene: ALAD

Linked Data

• dbSNP Id: rs1794797413
• gnomAD v4: 9-113389030-G-A
• MyVariant Identifiers: chr9:g.116151310G>A (hg19) ; chr9:g.113389030G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389030G>A , CM000671.2:g.113389030G>A	GRCh38
NC_000009.11:g.116151310G>A , CM000671.1:g.116151310G>A	GRCh37
NC_000009.10:g.115191131G>A	NCBI36
NG_008716.1:g.17309C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.878C>T MANE Select	ENSP00000386284.3:p.Ala293Val
ENST00000409155.7:c.878C>T	ENSP00000386284.3:p.Ala293Val
ENST00000482847.5:n.1151C>T
NM_000031.5:c.878C>T	NP_000022.3:p.Ala293Val
XM_005251799.1:c.965C>T	XP_005251856.1:p.Ala322Val
XM_011518363.1:c.1004C>T	XP_011516665.1:p.Ala335Val
XM_011518364.1:c.905C>T	XP_011516666.1:p.Ala302Val
NM_001003945.2:c.965C>T	NP_001003945.1:p.Ala322Val
NM_001317745.1:c.854C>T	NP_001304674.1:p.Ala285Val
XM_011518364.2:c.905C>T	XP_011516666.1:p.Ala302Val
XM_024447449.1:c.965C>T	XP_024303217.1:p.Ala322Val
NM_000031.6:c.878C>T MANE Select	NP_000022.3:p.Ala293Val
NM_001003945.3:c.965C>T	NP_001003945.1:p.Ala322Val
NM_001317745.2:c.854C>T	NP_001304674.1:p.Ala285Val