Canonical Allele Identifier: CA466754796

Gene: ALAD

Linked Data

• gnomAD v4: 9-113388984-G-C
• MyVariant Identifiers: chr9:g.116151264G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113388984G>C , CM000671.2:g.113388984G>C	GRCh38
NC_000009.11:g.116151264G>C , CM000671.1:g.116151264G>C	GRCh37
NC_000009.10:g.115191085G>C	NCBI36
NG_008716.1:g.17355C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.924C>G MANE Select	ENSP00000386284.3:p.Arg308=
ENST00000409155.7:c.924C>G	ENSP00000386284.3:p.Arg308=
ENST00000482847.5:n.1197C>G
NM_000031.5:c.924C>G	NP_000022.3:p.Arg308=
XM_005251799.1:c.1011C>G	XP_005251856.1:p.Arg337=
XM_011518363.1:c.1050C>G	XP_011516665.1:p.Arg350=
XM_011518364.1:c.951C>G	XP_011516666.1:p.Arg317=
NM_001003945.2:c.1011C>G	NP_001003945.1:p.Arg337=
NM_001317745.1:c.900C>G	NP_001304674.1:p.Arg300=
XM_011518364.2:c.951C>G	XP_011516666.1:p.Arg317=
XM_024447449.1:c.1011C>G	XP_024303217.1:p.Arg337=
NM_000031.6:c.924C>G MANE Select	NP_000022.3:p.Arg308=
NM_001003945.3:c.1011C>G	NP_001003945.1:p.Arg337=
NM_001317745.2:c.900C>G	NP_001304674.1:p.Arg300=