Canonical Allele Identifier: CA5196574

Gene: ALAD

Linked Data

• dbSNP Id: rs530804739
• ExAC: 9:116153851 G / C
• gnomAD v2: 9-116153851-G-C
• gnomAD v3: 9-113391571-G-C
• gnomAD v4: 9-113391571-G-C
• MyVariant Identifiers: chr9:g.116153851G>C (hg19) ; chr9:g.113391571G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391571G>C , CM000671.2:g.113391571G>C	GRCh38
NC_000009.11:g.116153851G>C , CM000671.1:g.116153851G>C	GRCh37
NC_000009.10:g.115193672G>C	NCBI36
NG_008716.1:g.14768C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.217C>G MANE Select	ENSP00000386284.3:p.Leu73Val
ENST00000409155.7:c.217C>G	ENSP00000386284.3:p.Leu73Val
ENST00000448137.5:c.244C>G	ENSP00000392748.1:p.Leu82Val
ENST00000464749.5:n.258-638C>G
ENST00000468504.5:n.339C>G
ENST00000482001.1:n.490C>G
ENST00000482847.5:n.490C>G
NM_000031.5:c.217C>G	NP_000022.3:p.Leu73Val
XM_005251799.1:c.304C>G	XP_005251856.1:p.Leu102Val
XM_011518363.1:c.343C>G	XP_011516665.1:p.Leu115Val
XM_011518364.1:c.244C>G	XP_011516666.1:p.Leu82Val
NM_001003945.2:c.304C>G	NP_001003945.1:p.Leu102Val
NM_001317745.1:c.193C>G	NP_001304674.1:p.Leu65Val
XM_011518364.2:c.244C>G	XP_011516666.1:p.Leu82Val
XM_024447449.1:c.304C>G	XP_024303217.1:p.Leu102Val
XR_002956764.1:n.717C>G
NM_000031.6:c.217C>G MANE Select	NP_000022.3:p.Leu73Val
NM_001003945.3:c.304C>G	NP_001003945.1:p.Leu102Val
NM_001317745.2:c.193C>G	NP_001304674.1:p.Leu65Val