Canonical Allele Identifier: CA374565913

Gene: ALAD

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113393526A>G , CM000671.2:g.113393526A>G	GRCh38
NC_000009.11:g.116155806A>G , CM000671.1:g.116155806A>G	GRCh37
NC_000009.10:g.115195627A>G	NCBI36
NG_008716.1:g.12813T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.34T>C MANE Select	ENSP00000386284.3:p.Phe12Leu
ENST00000409155.7:c.34T>C	ENSP00000386284.3:p.Phe12Leu
ENST00000448137.5:c.61T>C	ENSP00000392748.1:p.Phe21Leu
ENST00000452726.1:c.61T>C	ENSP00000415737.1:p.Phe21Leu
ENST00000464749.5:n.178T>C
ENST00000468504.5:n.156T>C
ENST00000482847.5:n.141T>C
ENST00000494848.1:n.182T>C
NM_000031.5:c.34T>C	NP_000022.3:p.Phe12Leu
XM_005251799.1:c.-46T>C	XP_005251856.1:n.-46T>C
XM_011518363.1:c.160T>C	XP_011516665.1:p.Phe54Leu
XM_011518364.1:c.61T>C	XP_011516666.1:p.Phe21Leu
NM_001003945.2:c.-46T>C	NP_001003945.1:n.-46T>C
NM_001317745.1:c.61T>C	NP_001304674.1:p.Phe21Leu
XM_011518364.2:c.61T>C	XP_011516666.1:p.Phe21Leu
XM_024447449.1:c.-46T>C	XP_024303217.1:n.-46T>C
XR_002956764.1:n.534T>C
NM_000031.6:c.34T>C MANE Select	NP_000022.3:p.Phe12Leu
NM_001003945.3:c.-46T>C	NP_001003945.1:n.-46T>C
NM_001317745.2:c.61T>C	NP_001304674.1:p.Phe21Leu