Canonical Allele Identifier: CA374564968

Gene: ALAD

Linked Data

• COSMIC: COSM4654417 ; COSM4654418 ; COSM4654419
• MyVariant Identifiers: chr9:g.116153820C>T (hg19) ; chr9:g.113391540C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391540C>T , CM000671.2:g.113391540C>T	GRCh38
NC_000009.11:g.116153820C>T , CM000671.1:g.116153820C>T	GRCh37
NC_000009.10:g.115193641C>T	NCBI36
NG_008716.1:g.14799G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.248G>A MANE Select	ENSP00000386284.3:p.Ser83Asn
ENST00000409155.7:c.248G>A	ENSP00000386284.3:p.Ser83Asn
ENST00000448137.5:c.275G>A	ENSP00000392748.1:p.Ser92Asn
ENST00000464749.5:n.258-607G>A
ENST00000468504.5:n.370G>A
ENST00000482001.1:n.521G>A
ENST00000482847.5:n.521G>A
NM_000031.5:c.248G>A	NP_000022.3:p.Ser83Asn
XM_005251799.1:c.335G>A	XP_005251856.1:p.Ser112Asn
XM_011518363.1:c.374G>A	XP_011516665.1:p.Ser125Asn
XM_011518364.1:c.275G>A	XP_011516666.1:p.Ser92Asn
NM_001003945.2:c.335G>A	NP_001003945.1:p.Ser112Asn
NM_001317745.1:c.224G>A	NP_001304674.1:p.Ser75Asn
XM_011518364.2:c.275G>A	XP_011516666.1:p.Ser92Asn
XM_024447449.1:c.335G>A	XP_024303217.1:p.Ser112Asn
XR_002956764.1:n.748G>A
NM_000031.6:c.248G>A MANE Select	NP_000022.3:p.Ser83Asn
NM_001003945.3:c.335G>A	NP_001003945.1:p.Ser112Asn
NM_001317745.2:c.224G>A	NP_001304674.1:p.Ser75Asn