Canonical Allele Identifier: CA5196567

Gene: ALAD

Linked Data

• dbSNP Id: rs200963049
• ExAC: 9:116153827 C / G
• gnomAD v2: 9-116153827-C-G
• gnomAD v4: 9-113391547-C-G
• MyVariant Identifiers: chr9:g.116153827C>G (hg19) ; chr9:g.113391547C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391547C>G , CM000671.2:g.113391547C>G	GRCh38
NC_000009.11:g.116153827C>G , CM000671.1:g.116153827C>G	GRCh37
NC_000009.10:g.115193648C>G	NCBI36
NG_008716.1:g.14792G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.241G>C MANE Select	ENSP00000386284.3:p.Val81Leu
ENST00000409155.7:c.241G>C	ENSP00000386284.3:p.Val81Leu
ENST00000448137.5:c.268G>C	ENSP00000392748.1:p.Val90Leu
ENST00000464749.5:n.258-614G>C
ENST00000468504.5:n.363G>C
ENST00000482001.1:n.514G>C
ENST00000482847.5:n.514G>C
NM_000031.5:c.241G>C	NP_000022.3:p.Val81Leu
XM_005251799.1:c.328G>C	XP_005251856.1:p.Val110Leu
XM_011518363.1:c.367G>C	XP_011516665.1:p.Val123Leu
XM_011518364.1:c.268G>C	XP_011516666.1:p.Val90Leu
NM_001003945.2:c.328G>C	NP_001003945.1:p.Val110Leu
NM_001317745.1:c.217G>C	NP_001304674.1:p.Val73Leu
XM_011518364.2:c.268G>C	XP_011516666.1:p.Val90Leu
XM_024447449.1:c.328G>C	XP_024303217.1:p.Val110Leu
XR_002956764.1:n.741G>C
NM_000031.6:c.241G>C MANE Select	NP_000022.3:p.Val81Leu
NM_001003945.3:c.328G>C	NP_001003945.1:p.Val110Leu
NM_001317745.2:c.217G>C	NP_001304674.1:p.Val73Leu