Canonical Allele Identifier: CA374565903

Gene: ALAD

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113393524G>T , CM000671.2:g.113393524G>T	GRCh38
NC_000009.11:g.116155804G>T , CM000671.1:g.116155804G>T	GRCh37
NC_000009.10:g.115195625G>T	NCBI36
NG_008716.1:g.12815C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.36C>A MANE Select	ENSP00000386284.3:p.Phe12Leu
ENST00000409155.7:c.36C>A	ENSP00000386284.3:p.Phe12Leu
ENST00000448137.5:c.63C>A	ENSP00000392748.1:p.Phe21Leu
ENST00000452726.1:c.63C>A	ENSP00000415737.1:p.Phe21Leu
ENST00000464749.5:n.180C>A
ENST00000468504.5:n.158C>A
ENST00000482847.5:n.143C>A
ENST00000494848.1:n.184C>A
NM_000031.5:c.36C>A	NP_000022.3:p.Phe12Leu
XM_005251799.1:c.-44C>A	XP_005251856.1:n.-44C>A
XM_011518363.1:c.162C>A	XP_011516665.1:p.Phe54Leu
XM_011518364.1:c.63C>A	XP_011516666.1:p.Phe21Leu
NM_001003945.2:c.-44C>A	NP_001003945.1:n.-44C>A
NM_001317745.1:c.63C>A	NP_001304674.1:p.Phe21Leu
XM_011518364.2:c.63C>A	XP_011516666.1:p.Phe21Leu
XM_024447449.1:c.-44C>A	XP_024303217.1:n.-44C>A
XR_002956764.1:n.536C>A
NM_000031.6:c.36C>A MANE Select	NP_000022.3:p.Phe12Leu
NM_001003945.3:c.-44C>A	NP_001003945.1:n.-44C>A
NM_001317745.2:c.63C>A	NP_001304674.1:p.Phe21Leu