Canonical Allele Identifier: CA374563134

Gene: ALAD

Linked Data

• MyVariant Identifiers: chr9:g.116151370A>G (hg19) ; chr9:g.113389090A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389090A>G , CM000671.2:g.113389090A>G	GRCh38
NC_000009.11:g.116151370A>G , CM000671.1:g.116151370A>G	GRCh37
NC_000009.10:g.115191191A>G	NCBI36
NG_008716.1:g.17249T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.818T>C MANE Select	ENSP00000386284.3:p.Leu273Pro
ENST00000409155.7:c.818T>C	ENSP00000386284.3:p.Leu273Pro
ENST00000482847.5:n.1091T>C
NM_000031.5:c.818T>C	NP_000022.3:p.Leu273Pro
XM_005251799.1:c.905T>C	XP_005251856.1:p.Leu302Pro
XM_011518363.1:c.944T>C	XP_011516665.1:p.Leu315Pro
XM_011518364.1:c.845T>C	XP_011516666.1:p.Leu282Pro
NM_001003945.2:c.905T>C	NP_001003945.1:p.Leu302Pro
NM_001317745.1:c.794T>C	NP_001304674.1:p.Leu265Pro
XM_011518364.2:c.845T>C	XP_011516666.1:p.Leu282Pro
XM_024447449.1:c.905T>C	XP_024303217.1:p.Leu302Pro
NM_000031.6:c.818T>C MANE Select	NP_000022.3:p.Leu273Pro
NM_001003945.3:c.905T>C	NP_001003945.1:p.Leu302Pro
NM_001317745.2:c.794T>C	NP_001304674.1:p.Leu265Pro