Canonical Allele Identifier: CA374562929

Gene: ALAD

Linked Data

• MyVariant Identifiers: chr9:g.116151272C>A (hg19) ; chr9:g.113388992C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113388992C>A , CM000671.2:g.113388992C>A	GRCh38
NC_000009.11:g.116151272C>A , CM000671.1:g.116151272C>A	GRCh37
NC_000009.10:g.115191093C>A	NCBI36
NG_008716.1:g.17347G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.916G>T MANE Select	ENSP00000386284.3:p.Ala306Ser
ENST00000409155.7:c.916G>T	ENSP00000386284.3:p.Ala306Ser
ENST00000482847.5:n.1189G>T
NM_000031.5:c.916G>T	NP_000022.3:p.Ala306Ser
XM_005251799.1:c.1003G>T	XP_005251856.1:p.Ala335Ser
XM_011518363.1:c.1042G>T	XP_011516665.1:p.Ala348Ser
XM_011518364.1:c.943G>T	XP_011516666.1:p.Ala315Ser
NM_001003945.2:c.1003G>T	NP_001003945.1:p.Ala335Ser
NM_001317745.1:c.892G>T	NP_001304674.1:p.Ala298Ser
XM_011518364.2:c.943G>T	XP_011516666.1:p.Ala315Ser
XM_024447449.1:c.1003G>T	XP_024303217.1:p.Ala335Ser
NM_000031.6:c.916G>T MANE Select	NP_000022.3:p.Ala306Ser
NM_001003945.3:c.1003G>T	NP_001003945.1:p.Ala335Ser
NM_001317745.2:c.892G>T	NP_001304674.1:p.Ala298Ser