Canonical Allele Identifier: CA374565216

Gene: ALAD

Linked Data

• dbSNP Id: rs1412547508
• gnomAD v2: 9-116153903-C-A
• gnomAD v4: 9-113391623-C-A
• MyVariant Identifiers: chr9:g.116153903C>A (hg19) ; chr9:g.113391623C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391623C>A , CM000671.2:g.113391623C>A	GRCh38
NC_000009.11:g.116153903C>A , CM000671.1:g.116153903C>A	GRCh37
NC_000009.10:g.115193724C>A	NCBI36
NG_008716.1:g.14716G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.165G>T MANE Select	ENSP00000386284.3:p.Arg55Ser
ENST00000409155.7:c.165G>T	ENSP00000386284.3:p.Arg55Ser
ENST00000448137.5:c.192G>T	ENSP00000392748.1:p.Arg64Ser
ENST00000464749.5:n.258-690G>T
ENST00000468504.5:n.287G>T
ENST00000482001.1:n.438G>T
ENST00000482847.5:n.438G>T
NM_000031.5:c.165G>T	NP_000022.3:p.Arg55Ser
XM_005251799.1:c.252G>T	XP_005251856.1:p.Arg84Ser
XM_011518363.1:c.291G>T	XP_011516665.1:p.Arg97Ser
XM_011518364.1:c.192G>T	XP_011516666.1:p.Arg64Ser
NM_001003945.2:c.252G>T	NP_001003945.1:p.Arg84Ser
NM_001317745.1:c.141G>T	NP_001304674.1:p.Thr47=
XM_011518364.2:c.192G>T	XP_011516666.1:p.Arg64Ser
XM_024447449.1:c.252G>T	XP_024303217.1:p.Arg84Ser
XR_002956764.1:n.665G>T
NM_000031.6:c.165G>T MANE Select	NP_000022.3:p.Arg55Ser
NM_001003945.3:c.252G>T	NP_001003945.1:p.Arg84Ser
NM_001317745.2:c.141G>T	NP_001304674.1:p.Thr47=