Canonical Allele Identifier: CA5196321

Gene: ALAD

Linked Data

• ClinVar Variation Id: 364642
• ClinVar RCV Id: RCV000383862
• dbSNP Id: rs370242589
• ExAC: 9:116151291 G / A
• gnomAD v2: 9-116151291-G-A
• gnomAD v4: 9-113389011-G-A
• COSMIC: COSM3699350 ; COSM3699351
• MyVariant Identifiers: chr9:g.116151291G>A (hg19) ; chr9:g.113389011G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389011G>A , CM000671.2:g.113389011G>A	GRCh38
NC_000009.11:g.116151291G>A , CM000671.1:g.116151291G>A	GRCh37
NC_000009.10:g.115191112G>A	NCBI36
NG_008716.1:g.17328C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.897C>T MANE Select	ENSP00000386284.3:p.Ala299=
ENST00000409155.7:c.897C>T	ENSP00000386284.3:p.Ala299=
ENST00000482847.5:n.1170C>T
NM_000031.5:c.897C>T	NP_000022.3:p.Ala299=
XM_005251799.1:c.984C>T	XP_005251856.1:p.Ala328=
XM_011518363.1:c.1023C>T	XP_011516665.1:p.Ala341=
XM_011518364.1:c.924C>T	XP_011516666.1:p.Ala308=
NM_001003945.2:c.984C>T	NP_001003945.1:p.Ala328=
NM_001317745.1:c.873C>T	NP_001304674.1:p.Ala291=
XM_011518364.2:c.924C>T	XP_011516666.1:p.Ala308=
XM_024447449.1:c.984C>T	XP_024303217.1:p.Ala328=
NM_000031.6:c.897C>T MANE Select	NP_000022.3:p.Ala299=
NM_001003945.3:c.984C>T	NP_001003945.1:p.Ala328=
NM_001317745.2:c.873C>T	NP_001304674.1:p.Ala291=