Canonical Allele Identifier: CA374564988

Gene: ALAD

Linked Data

• MyVariant Identifiers: chr9:g.116153826A>G (hg19) ; chr9:g.113391546A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391546A>G , CM000671.2:g.113391546A>G	GRCh38
NC_000009.11:g.116153826A>G , CM000671.1:g.116153826A>G	GRCh37
NC_000009.10:g.115193647A>G	NCBI36
NG_008716.1:g.14793T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.242T>C MANE Select	ENSP00000386284.3:p.Val81Ala
ENST00000409155.7:c.242T>C	ENSP00000386284.3:p.Val81Ala
ENST00000448137.5:c.269T>C	ENSP00000392748.1:p.Val90Ala
ENST00000464749.5:n.258-613T>C
ENST00000468504.5:n.364T>C
ENST00000482001.1:n.515T>C
ENST00000482847.5:n.515T>C
NM_000031.5:c.242T>C	NP_000022.3:p.Val81Ala
XM_005251799.1:c.329T>C	XP_005251856.1:p.Val110Ala
XM_011518363.1:c.368T>C	XP_011516665.1:p.Val123Ala
XM_011518364.1:c.269T>C	XP_011516666.1:p.Val90Ala
NM_001003945.2:c.329T>C	NP_001003945.1:p.Val110Ala
NM_001317745.1:c.218T>C	NP_001304674.1:p.Val73Ala
XM_011518364.2:c.269T>C	XP_011516666.1:p.Val90Ala
XM_024447449.1:c.329T>C	XP_024303217.1:p.Val110Ala
XR_002956764.1:n.742T>C
NM_000031.6:c.242T>C MANE Select	NP_000022.3:p.Val81Ala
NM_001003945.3:c.329T>C	NP_001003945.1:p.Val110Ala
NM_001317745.2:c.218T>C	NP_001304674.1:p.Val73Ala