Canonical Allele Identifier: CA374562955

Gene: ALAD

Linked Data

• gnomAD v4: 9-113389004-C-G
• MyVariant Identifiers: chr9:g.116151284C>G (hg19) ; chr9:g.113389004C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389004C>G , CM000671.2:g.113389004C>G	GRCh38
NC_000009.11:g.116151284C>G , CM000671.1:g.116151284C>G	GRCh37
NC_000009.10:g.115191105C>G	NCBI36
NG_008716.1:g.17335G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.904G>C MANE Select	ENSP00000386284.3:p.Glu302Gln
ENST00000409155.7:c.904G>C	ENSP00000386284.3:p.Glu302Gln
ENST00000482847.5:n.1177G>C
NM_000031.5:c.904G>C	NP_000022.3:p.Glu302Gln
XM_005251799.1:c.991G>C	XP_005251856.1:p.Glu331Gln
XM_011518363.1:c.1030G>C	XP_011516665.1:p.Glu344Gln
XM_011518364.1:c.931G>C	XP_011516666.1:p.Glu311Gln
NM_001003945.2:c.991G>C	NP_001003945.1:p.Glu331Gln
NM_001317745.1:c.880G>C	NP_001304674.1:p.Glu294Gln
XM_011518364.2:c.931G>C	XP_011516666.1:p.Glu311Gln
XM_024447449.1:c.991G>C	XP_024303217.1:p.Glu331Gln
NM_000031.6:c.904G>C MANE Select	NP_000022.3:p.Glu302Gln
NM_001003945.3:c.991G>C	NP_001003945.1:p.Glu331Gln
NM_001317745.2:c.880G>C	NP_001304674.1:p.Glu294Gln