Canonical Allele Identifier: CA374564991

Gene: ALAD

Linked Data

• MyVariant Identifiers: chr9:g.116153827C>A (hg19) ; chr9:g.113391547C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391547C>A , CM000671.2:g.113391547C>A	GRCh38
NC_000009.11:g.116153827C>A , CM000671.1:g.116153827C>A	GRCh37
NC_000009.10:g.115193648C>A	NCBI36
NG_008716.1:g.14792G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.241G>T MANE Select	ENSP00000386284.3:p.Val81Phe
ENST00000409155.7:c.241G>T	ENSP00000386284.3:p.Val81Phe
ENST00000448137.5:c.268G>T	ENSP00000392748.1:p.Val90Phe
ENST00000464749.5:n.258-614G>T
ENST00000468504.5:n.363G>T
ENST00000482001.1:n.514G>T
ENST00000482847.5:n.514G>T
NM_000031.5:c.241G>T	NP_000022.3:p.Val81Phe
XM_005251799.1:c.328G>T	XP_005251856.1:p.Val110Phe
XM_011518363.1:c.367G>T	XP_011516665.1:p.Val123Phe
XM_011518364.1:c.268G>T	XP_011516666.1:p.Val90Phe
NM_001003945.2:c.328G>T	NP_001003945.1:p.Val110Phe
NM_001317745.1:c.217G>T	NP_001304674.1:p.Val73Phe
XM_011518364.2:c.268G>T	XP_011516666.1:p.Val90Phe
XM_024447449.1:c.328G>T	XP_024303217.1:p.Val110Phe
XR_002956764.1:n.741G>T
NM_000031.6:c.241G>T MANE Select	NP_000022.3:p.Val81Phe
NM_001003945.3:c.328G>T	NP_001003945.1:p.Val110Phe
NM_001317745.2:c.217G>T	NP_001304674.1:p.Val73Phe