Canonical Allele Identifier: CA5196316

Gene: ALAD

Linked Data

• dbSNP Id: rs764311002
• ExAC: 9:116151269 A / G
• gnomAD v2: 9-116151269-A-G
• gnomAD v4: 9-113388989-A-G
• MyVariant Identifiers: chr9:g.116151269A>G (hg19) ; chr9:g.113388989A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.919T>C MANE Select	ENSP00000386284.3:p.Phe307Leu
ENST00000409155.7:c.919T>C	ENSP00000386284.3:p.Phe307Leu
ENST00000482847.5:n.1192T>C
NM_000031.5:c.919T>C	NP_000022.3:p.Phe307Leu
XM_005251799.1:c.1006T>C	XP_005251856.1:p.Phe336Leu
XM_011518363.1:c.1045T>C	XP_011516665.1:p.Phe349Leu
XM_011518364.1:c.946T>C	XP_011516666.1:p.Phe316Leu
NM_001003945.2:c.1006T>C	NP_001003945.1:p.Phe336Leu
NM_001317745.1:c.895T>C	NP_001304674.1:p.Phe299Leu
XM_011518364.2:c.946T>C	XP_011516666.1:p.Phe316Leu
XM_024447449.1:c.1006T>C	XP_024303217.1:p.Phe336Leu
NM_000031.6:c.919T>C MANE Select	NP_000022.3:p.Phe307Leu
NM_001003945.3:c.1006T>C	NP_001003945.1:p.Phe336Leu
NM_001317745.2:c.895T>C	NP_001304674.1:p.Phe299Leu