Canonical Allele Identifier: CA374564952

Gene: ALAD

Linked Data

• MyVariant Identifiers: chr9:g.116153816T>G (hg19) ; chr9:g.113391536T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391536T>G , CM000671.2:g.113391536T>G	GRCh38
NC_000009.11:g.116153816T>G , CM000671.1:g.116153816T>G	GRCh37
NC_000009.10:g.115193637T>G	NCBI36
NG_008716.1:g.14803A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.252A>C MANE Select	ENSP00000386284.3:p.Arg84Ser
ENST00000409155.7:c.252A>C	ENSP00000386284.3:p.Arg84Ser
ENST00000448137.5:c.279A>C	ENSP00000392748.1:p.Arg93Ser
ENST00000464749.5:n.258-603A>C
ENST00000468504.5:n.374A>C
ENST00000482001.1:n.525A>C
ENST00000482847.5:n.525A>C
NM_000031.5:c.252A>C	NP_000022.3:p.Arg84Ser
XM_005251799.1:c.339A>C	XP_005251856.1:p.Arg113Ser
XM_011518363.1:c.378A>C	XP_011516665.1:p.Arg126Ser
XM_011518364.1:c.279A>C	XP_011516666.1:p.Arg93Ser
NM_001003945.2:c.339A>C	NP_001003945.1:p.Arg113Ser
NM_001317745.1:c.228A>C	NP_001304674.1:p.Arg76Ser
XM_011518364.2:c.279A>C	XP_011516666.1:p.Arg93Ser
XM_024447449.1:c.339A>C	XP_024303217.1:p.Arg113Ser
XR_002956764.1:n.752A>C
NM_000031.6:c.252A>C MANE Select	NP_000022.3:p.Arg84Ser
NM_001003945.3:c.339A>C	NP_001003945.1:p.Arg113Ser
NM_001317745.2:c.228A>C	NP_001304674.1:p.Arg76Ser