Canonical Allele Identifier: CA374562942

Gene: ALAD

Linked Data

• ClinVar Variation Id: 913817
• ClinVar RCV Id: RCV001167637
• dbSNP Id: rs1588081960
• MyVariant Identifiers: chr9:g.116151278T>C (hg19) ; chr9:g.113388998T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113388998T>C , CM000671.2:g.113388998T>C	GRCh38
NC_000009.11:g.116151278T>C , CM000671.1:g.116151278T>C	GRCh37
NC_000009.10:g.115191099T>C	NCBI36
NG_008716.1:g.17341A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.910A>G MANE Select	ENSP00000386284.3:p.Met304Val
ENST00000409155.7:c.910A>G	ENSP00000386284.3:p.Met304Val
ENST00000482847.5:n.1183A>G
NM_000031.5:c.910A>G	NP_000022.3:p.Met304Val
XM_005251799.1:c.997A>G	XP_005251856.1:p.Met333Val
XM_011518363.1:c.1036A>G	XP_011516665.1:p.Met346Val
XM_011518364.1:c.937A>G	XP_011516666.1:p.Met313Val
NM_001003945.2:c.997A>G	NP_001003945.1:p.Met333Val
NM_001317745.1:c.886A>G	NP_001304674.1:p.Met296Val
XM_011518364.2:c.937A>G	XP_011516666.1:p.Met313Val
XM_024447449.1:c.997A>G	XP_024303217.1:p.Met333Val
NM_000031.6:c.910A>G MANE Select	NP_000022.3:p.Met304Val
NM_001003945.3:c.997A>G	NP_001003945.1:p.Met333Val
NM_001317745.2:c.886A>G	NP_001304674.1:p.Met296Val