Canonical Allele Identifier: CA374564930

Gene: ALAD

Linked Data

• MyVariant Identifiers: chr9:g.116153811G>A (hg19) ; chr9:g.113391531G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391531G>A , CM000671.2:g.113391531G>A	GRCh38
NC_000009.11:g.116153811G>A , CM000671.1:g.116153811G>A	GRCh37
NC_000009.10:g.115193632G>A	NCBI36
NG_008716.1:g.14808C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.257C>T MANE Select	ENSP00000386284.3:p.Pro86Leu
ENST00000409155.7:c.257C>T	ENSP00000386284.3:p.Pro86Leu
ENST00000448137.5:c.284C>T	ENSP00000392748.1:p.Pro95Leu
ENST00000464749.5:n.258-598C>T
ENST00000468504.5:n.379C>T
ENST00000482001.1:n.530C>T
ENST00000482847.5:n.530C>T
NM_000031.5:c.257C>T	NP_000022.3:p.Pro86Leu
XM_005251799.1:c.344C>T	XP_005251856.1:p.Pro115Leu
XM_011518363.1:c.383C>T	XP_011516665.1:p.Pro128Leu
XM_011518364.1:c.284C>T	XP_011516666.1:p.Pro95Leu
NM_001003945.2:c.344C>T	NP_001003945.1:p.Pro115Leu
NM_001317745.1:c.233C>T	NP_001304674.1:p.Pro78Leu
XM_011518364.2:c.284C>T	XP_011516666.1:p.Pro95Leu
XM_024447449.1:c.344C>T	XP_024303217.1:p.Pro115Leu
XR_002956764.1:n.757C>T
NM_000031.6:c.257C>T MANE Select	NP_000022.3:p.Pro86Leu
NM_001003945.3:c.344C>T	NP_001003945.1:p.Pro115Leu
NM_001317745.2:c.233C>T	NP_001304674.1:p.Pro78Leu