Canonical Allele Identifier: CA374564961

Gene: ALAD

Linked Data

• MyVariant Identifiers: chr9:g.116153819G>T (hg19) ; chr9:g.113391539G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391539G>T , CM000671.2:g.113391539G>T	GRCh38
NC_000009.11:g.116153819G>T , CM000671.1:g.116153819G>T	GRCh37
NC_000009.10:g.115193640G>T	NCBI36
NG_008716.1:g.14800C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.249C>A MANE Select	ENSP00000386284.3:p.Ser83Arg
ENST00000409155.7:c.249C>A	ENSP00000386284.3:p.Ser83Arg
ENST00000448137.5:c.276C>A	ENSP00000392748.1:p.Ser92Arg
ENST00000464749.5:n.258-606C>A
ENST00000468504.5:n.371C>A
ENST00000482001.1:n.522C>A
ENST00000482847.5:n.522C>A
NM_000031.5:c.249C>A	NP_000022.3:p.Ser83Arg
XM_005251799.1:c.336C>A	XP_005251856.1:p.Ser112Arg
XM_011518363.1:c.375C>A	XP_011516665.1:p.Ser125Arg
XM_011518364.1:c.276C>A	XP_011516666.1:p.Ser92Arg
NM_001003945.2:c.336C>A	NP_001003945.1:p.Ser112Arg
NM_001317745.1:c.225C>A	NP_001304674.1:p.Ser75Arg
XM_011518364.2:c.276C>A	XP_011516666.1:p.Ser92Arg
XM_024447449.1:c.336C>A	XP_024303217.1:p.Ser112Arg
XR_002956764.1:n.749C>A
NM_000031.6:c.249C>A MANE Select	NP_000022.3:p.Ser83Arg
NM_001003945.3:c.336C>A	NP_001003945.1:p.Ser112Arg
NM_001317745.2:c.225C>A	NP_001304674.1:p.Ser75Arg