Canonical Allele Identifier: CA340443

Gene: AGXT

Linked Data

• ClinVar Variation Id: 5644
• ClinVar RCV Id: RCV000005998 ; RCV000662315 ; RCV001221086 ; RCV002509145
• dbSNP Id: rs121908523
• ExAC: 2:241808403 G / A
• gnomAD v2: 2-241808403-G-A
• gnomAD v3: 2-240868986-G-A
• gnomAD v4: 2-240868986-G-A
• MyVariant Identifiers: chr2:g.241808403G>A (hg19) ; chr2:g.240868986G>A (hg38)
• PubMed: PMID:8101040 ; PMID:10960483 ; PMID:19155213 ; PMID:20301460 ; PMID:23229545

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240868986G>A , CM000664.2:g.240868986G>A	GRCh38
NC_000002.11:g.241808403G>A , CM000664.1:g.241808403G>A	GRCh37
NC_000002.10:g.241457076G>A	NCBI36
NG_008005.1:g.5242G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.121G>A MANE Select	ENSP00000302620.3:p.Gly41Arg
ENST00000307503.3:c.121G>A	ENSP00000302620.3:p.Gly41Arg
ENST00000472436.1:n.141G>A
NM_000030.2:c.121G>A	NP_000021.1:p.Gly41Arg
XR_924060.1:n.405+1247C>T
NM_000030.3:c.121G>A MANE Select	NP_000021.1:p.Gly41Arg