Canonical Allele Identifier: CA198545533

Gene: ALAD

Linked Data

• dbSNP Id: rs913213690
• MyVariant Identifiers: chr9:g.116151275T>C (hg19) ; chr9:g.113388995T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113388995T>C , CM000671.2:g.113388995T>C	GRCh38
NC_000009.11:g.116151275T>C , CM000671.1:g.116151275T>C	GRCh37
NC_000009.10:g.115191096T>C	NCBI36
NG_008716.1:g.17344A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.913A>G MANE Select	ENSP00000386284.3:p.Thr305Ala
ENST00000409155.7:c.913A>G	ENSP00000386284.3:p.Thr305Ala
ENST00000482847.5:n.1186A>G
NM_000031.5:c.913A>G	NP_000022.3:p.Thr305Ala
XM_005251799.1:c.1000A>G	XP_005251856.1:p.Thr334Ala
XM_011518363.1:c.1039A>G	XP_011516665.1:p.Thr347Ala
XM_011518364.1:c.940A>G	XP_011516666.1:p.Thr314Ala
NM_001003945.2:c.1000A>G	NP_001003945.1:p.Thr334Ala
NM_001317745.1:c.889A>G	NP_001304674.1:p.Thr297Ala
XM_011518364.2:c.940A>G	XP_011516666.1:p.Thr314Ala
XM_024447449.1:c.1000A>G	XP_024303217.1:p.Thr334Ala
NM_000031.6:c.913A>G MANE Select	NP_000022.3:p.Thr305Ala
NM_001003945.3:c.1000A>G	NP_001003945.1:p.Thr334Ala
NM_001317745.2:c.889A>G	NP_001304674.1:p.Thr297Ala