Canonical Allele Identifier: CA374564913

Gene: ALAD

Linked Data

• COSMIC: COSM4885151 ; COSM4885152 ; COSM4885153
• MyVariant Identifiers: chr9:g.116153807C>A (hg19) ; chr9:g.113391527C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391527C>A , CM000671.2:g.113391527C>A	GRCh38
NC_000009.11:g.116153807C>A , CM000671.1:g.116153807C>A	GRCh37
NC_000009.10:g.115193628C>A	NCBI36
NG_008716.1:g.14812G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.261G>T MANE Select	ENSP00000386284.3:p.Lys87Asn
ENST00000409155.7:c.261G>T	ENSP00000386284.3:p.Lys87Asn
ENST00000448137.5:c.288G>T	ENSP00000392748.1:p.Lys96Asn
ENST00000464749.5:n.258-594G>T
ENST00000468504.5:n.383G>T
ENST00000482001.1:n.534G>T
ENST00000482847.5:n.534G>T
NM_000031.5:c.261G>T	NP_000022.3:p.Lys87Asn
XM_005251799.1:c.348G>T	XP_005251856.1:p.Lys116Asn
XM_011518363.1:c.387G>T	XP_011516665.1:p.Lys129Asn
XM_011518364.1:c.288G>T	XP_011516666.1:p.Lys96Asn
NM_001003945.2:c.348G>T	NP_001003945.1:p.Lys116Asn
NM_001317745.1:c.237G>T	NP_001304674.1:p.Lys79Asn
XM_011518364.2:c.288G>T	XP_011516666.1:p.Lys96Asn
XM_024447449.1:c.348G>T	XP_024303217.1:p.Lys116Asn
XR_002956764.1:n.761G>T
NM_000031.6:c.261G>T MANE Select	NP_000022.3:p.Lys87Asn
NM_001003945.3:c.348G>T	NP_001003945.1:p.Lys116Asn
NM_001317745.2:c.237G>T	NP_001304674.1:p.Lys79Asn