Canonical Allele Identifier: CA374562971

Gene: ALAD

Linked Data

• MyVariant Identifiers: chr9:g.116151293C>T (hg19) ; chr9:g.113389013C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389013C>T , CM000671.2:g.113389013C>T	GRCh38
NC_000009.11:g.116151293C>T , CM000671.1:g.116151293C>T	GRCh37
NC_000009.10:g.115191114C>T	NCBI36
NG_008716.1:g.17326G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.895G>A MANE Select	ENSP00000386284.3:p.Ala299Thr
ENST00000409155.7:c.895G>A	ENSP00000386284.3:p.Ala299Thr
ENST00000482847.5:n.1168G>A
NM_000031.5:c.895G>A	NP_000022.3:p.Ala299Thr
XM_005251799.1:c.982G>A	XP_005251856.1:p.Ala328Thr
XM_011518363.1:c.1021G>A	XP_011516665.1:p.Ala341Thr
XM_011518364.1:c.922G>A	XP_011516666.1:p.Ala308Thr
NM_001003945.2:c.982G>A	NP_001003945.1:p.Ala328Thr
NM_001317745.1:c.871G>A	NP_001304674.1:p.Ala291Thr
XM_011518364.2:c.922G>A	XP_011516666.1:p.Ala308Thr
XM_024447449.1:c.982G>A	XP_024303217.1:p.Ala328Thr
NM_000031.6:c.895G>A MANE Select	NP_000022.3:p.Ala299Thr
NM_001003945.3:c.982G>A	NP_001003945.1:p.Ala328Thr
NM_001317745.2:c.871G>A	NP_001304674.1:p.Ala291Thr