Canonical Allele Identifier: CA343785

Gene: AGXT

Linked Data

• ClinVar Variation Id: 40166
• ClinVar RCV Id: RCV000032681 ; RCV000432954 ; RCV000589490 ; RCV003407388
• dbSNP Id: rs121908529
• ExAC: 2:241810850 G / A
• gnomAD v2: 2-241810850-G-A
• gnomAD v3: 2-240871433-G-A
• gnomAD v4: 2-240871433-G-A
• MyVariant Identifiers: chr2:g.241810850G>A (hg19) ; chr2:g.240871433G>A (hg38)
• PubMed: PMID:1703535 ; PMID:1961759 ; PMID:10453743 ; PMID:10960483 ; PMID:15464418 ; PMID:15802217 ; PMID:17110443 ; PMID:20301460 ; PMID:20713123 ; PMID:22529745 ; PMID:23891399 ; PMID:24990153

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240871433G>A , CM000664.2:g.240871433G>A	GRCh38
NC_000002.11:g.241810850G>A , CM000664.1:g.241810850G>A	GRCh37
NC_000002.10:g.241459523G>A	NCBI36
NG_008005.1:g.7689G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.508G>A MANE Select	ENSP00000302620.3:p.Gly170Arg
ENST00000307503.3:c.508G>A	ENSP00000302620.3:p.Gly170Arg
ENST00000472436.1:n.528G>A
ENST00000476698.1:n.245G>A
NM_000030.2:c.508G>A	NP_000021.1:p.Gly170Arg
NM_000030.3:c.508G>A MANE Select	NP_000021.1:p.Gly170Arg