Canonical Allele Identifier: CA374564983

Gene: ALAD

Linked Data

• COSMIC: COSM1701542 ; COSM1701543
• MyVariant Identifiers: chr9:g.116153824G>A (hg19) ; chr9:g.113391544G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391544G>A , CM000671.2:g.113391544G>A	GRCh38
NC_000009.11:g.116153824G>A , CM000671.1:g.116153824G>A	GRCh37
NC_000009.10:g.115193645G>A	NCBI36
NG_008716.1:g.14795C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.244C>T MANE Select	ENSP00000386284.3:p.Pro82Ser
ENST00000409155.7:c.244C>T	ENSP00000386284.3:p.Pro82Ser
ENST00000448137.5:c.271C>T	ENSP00000392748.1:p.Pro91Ser
ENST00000464749.5:n.258-611C>T
ENST00000468504.5:n.366C>T
ENST00000482001.1:n.517C>T
ENST00000482847.5:n.517C>T
NM_000031.5:c.244C>T	NP_000022.3:p.Pro82Ser
XM_005251799.1:c.331C>T	XP_005251856.1:p.Pro111Ser
XM_011518363.1:c.370C>T	XP_011516665.1:p.Pro124Ser
XM_011518364.1:c.271C>T	XP_011516666.1:p.Pro91Ser
NM_001003945.2:c.331C>T	NP_001003945.1:p.Pro111Ser
NM_001317745.1:c.220C>T	NP_001304674.1:p.Pro74Ser
XM_011518364.2:c.271C>T	XP_011516666.1:p.Pro91Ser
XM_024447449.1:c.331C>T	XP_024303217.1:p.Pro111Ser
XR_002956764.1:n.744C>T
NM_000031.6:c.244C>T MANE Select	NP_000022.3:p.Pro82Ser
NM_001003945.3:c.331C>T	NP_001003945.1:p.Pro111Ser
NM_001317745.2:c.220C>T	NP_001304674.1:p.Pro74Ser