Canonical Allele Identifier: CA374563127

Gene: ALAD

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389085C>A , CM000671.2:g.113389085C>A	GRCh38
NC_000009.11:g.116151365C>A , CM000671.1:g.116151365C>A	GRCh37
NC_000009.10:g.115191186C>A	NCBI36
NG_008716.1:g.17254G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000031.6:c.823G>T MANE Select	NP_000022.3:p.Val275Leu
ENST00000409155.8:c.823G>T MANE Select	ENSP00000386284.3:p.Val275Leu
NM_000031.5:c.823G>T	NP_000022.3:p.Val275Leu
NM_001003945.2:c.910G>T	NP_001003945.1:p.Val304Leu
NM_001003945.3:c.910G>T	NP_001003945.1:p.Val304Leu
NM_001317745.1:c.799G>T	NP_001304674.1:p.Val267Leu
NM_001317745.2:c.799G>T	NP_001304674.1:p.Val267Leu
ENST00000409155.7:c.823G>T	ENSP00000386284.3:p.Val275Leu
ENST00000482847.5:n.1096G>T
XM_005251799.1:c.910G>T	XP_005251856.1:p.Val304Leu
XM_011518363.1:c.949G>T	XP_011516665.1:p.Val317Leu
XM_011518364.1:c.850G>T	XP_011516666.1:p.Val284Leu
XM_011518364.2:c.850G>T	XP_011516666.1:p.Val284Leu
XM_024447449.1:c.910G>T	XP_024303217.1:p.Val304Leu