Canonical Allele Identifier: CA374563024

Gene: ALAD

Linked Data

• dbSNP Id: rs1827489724
• gnomAD v4: 9-113389039-T-C
• MyVariant Identifiers: chr9:g.116151319T>C (hg19) ; chr9:g.113389039T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389039T>C , CM000671.2:g.113389039T>C	GRCh38
NC_000009.11:g.116151319T>C , CM000671.1:g.116151319T>C	GRCh37
NC_000009.10:g.115191140T>C	NCBI36
NG_008716.1:g.17300A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.869A>G MANE Select	ENSP00000386284.3:p.Gln290Arg
ENST00000409155.7:c.869A>G	ENSP00000386284.3:p.Gln290Arg
ENST00000482847.5:n.1142A>G
NM_000031.5:c.869A>G	NP_000022.3:p.Gln290Arg
XM_005251799.1:c.956A>G	XP_005251856.1:p.Gln319Arg
XM_011518363.1:c.995A>G	XP_011516665.1:p.Gln332Arg
XM_011518364.1:c.896A>G	XP_011516666.1:p.Gln299Arg
NM_001003945.2:c.956A>G	NP_001003945.1:p.Gln319Arg
NM_001317745.1:c.845A>G	NP_001304674.1:p.Gln282Arg
XM_011518364.2:c.896A>G	XP_011516666.1:p.Gln299Arg
XM_024447449.1:c.956A>G	XP_024303217.1:p.Gln319Arg
NM_000031.6:c.869A>G MANE Select	NP_000022.3:p.Gln290Arg
NM_001003945.3:c.956A>G	NP_001003945.1:p.Gln319Arg
NM_001317745.2:c.845A>G	NP_001304674.1:p.Gln282Arg