Canonical Allele Identifier: CA374562924

Gene: ALAD

Linked Data

• MyVariant Identifiers: chr9:g.116151269A>C (hg19) ; chr9:g.113388989A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113388989A>C , CM000671.2:g.113388989A>C	GRCh38
NC_000009.11:g.116151269A>C , CM000671.1:g.116151269A>C	GRCh37
NC_000009.10:g.115191090A>C	NCBI36
NG_008716.1:g.17350T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.919T>G MANE Select	ENSP00000386284.3:p.Phe307Val
ENST00000409155.7:c.919T>G	ENSP00000386284.3:p.Phe307Val
ENST00000482847.5:n.1192T>G
NM_000031.5:c.919T>G	NP_000022.3:p.Phe307Val
XM_005251799.1:c.1006T>G	XP_005251856.1:p.Phe336Val
XM_011518363.1:c.1045T>G	XP_011516665.1:p.Phe349Val
XM_011518364.1:c.946T>G	XP_011516666.1:p.Phe316Val
NM_001003945.2:c.1006T>G	NP_001003945.1:p.Phe336Val
NM_001317745.1:c.895T>G	NP_001304674.1:p.Phe299Val
XM_011518364.2:c.946T>G	XP_011516666.1:p.Phe316Val
XM_024447449.1:c.1006T>G	XP_024303217.1:p.Phe336Val
NM_000031.6:c.919T>G MANE Select	NP_000022.3:p.Phe307Val
NM_001003945.3:c.1006T>G	NP_001003945.1:p.Phe336Val
NM_001317745.2:c.895T>G	NP_001304674.1:p.Phe299Val