Canonical Allele Identifier: CA5196342

Gene: ALAD

Linked Data

• dbSNP Id: rs747842090
• ExAC: 9:116151380 C / T
• gnomAD v2: 9-116151380-C-T
• gnomAD v4: 9-113389100-C-T
• MyVariant Identifiers: chr9:g.116151380C>T (hg19) ; chr9:g.113389100C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389100C>T , CM000671.2:g.113389100C>T	GRCh38
NC_000009.11:g.116151380C>T , CM000671.1:g.116151380C>T	GRCh37
NC_000009.10:g.115191201C>T	NCBI36
NG_008716.1:g.17239G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.808G>A MANE Select	ENSP00000386284.3:p.Asp270Asn
ENST00000409155.7:c.808G>A	ENSP00000386284.3:p.Asp270Asn
ENST00000482847.5:n.1081G>A
NM_000031.5:c.808G>A	NP_000022.3:p.Asp270Asn
XM_005251799.1:c.895G>A	XP_005251856.1:p.Asp299Asn
XM_011518363.1:c.934G>A	XP_011516665.1:p.Asp312Asn
XM_011518364.1:c.835G>A	XP_011516666.1:p.Asp279Asn
NM_001003945.2:c.895G>A	NP_001003945.1:p.Asp299Asn
NM_001317745.1:c.784G>A	NP_001304674.1:p.Asp262Asn
XM_011518364.2:c.835G>A	XP_011516666.1:p.Asp279Asn
XM_024447449.1:c.895G>A	XP_024303217.1:p.Asp299Asn
NM_000031.6:c.808G>A MANE Select	NP_000022.3:p.Asp270Asn
NM_001003945.3:c.895G>A	NP_001003945.1:p.Asp299Asn
NM_001317745.2:c.784G>A	NP_001304674.1:p.Asp262Asn