Canonical Allele Identifier: CA374563043

Gene: ALAD

Linked Data

• gnomAD v4: 9-113389048-T-C
• MyVariant Identifiers: chr9:g.116151328T>C (hg19) ; chr9:g.113389048T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389048T>C , CM000671.2:g.113389048T>C	GRCh38
NC_000009.11:g.116151328T>C , CM000671.1:g.116151328T>C	GRCh37
NC_000009.10:g.115191149T>C	NCBI36
NG_008716.1:g.17291A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.860A>G MANE Select	ENSP00000386284.3:p.His287Arg
ENST00000409155.7:c.860A>G	ENSP00000386284.3:p.His287Arg
ENST00000482847.5:n.1133A>G
NM_000031.5:c.860A>G	NP_000022.3:p.His287Arg
XM_005251799.1:c.947A>G	XP_005251856.1:p.His316Arg
XM_011518363.1:c.986A>G	XP_011516665.1:p.His329Arg
XM_011518364.1:c.887A>G	XP_011516666.1:p.His296Arg
NM_001003945.2:c.947A>G	NP_001003945.1:p.His316Arg
NM_001317745.1:c.836A>G	NP_001304674.1:p.His279Arg
XM_011518364.2:c.887A>G	XP_011516666.1:p.His296Arg
XM_024447449.1:c.947A>G	XP_024303217.1:p.His316Arg
NM_000031.6:c.860A>G MANE Select	NP_000022.3:p.His287Arg
NM_001003945.3:c.947A>G	NP_001003945.1:p.His316Arg
NM_001317745.2:c.836A>G	NP_001304674.1:p.His279Arg