Canonical Allele Identifier: CA253545

Gene: AGXT

Linked Data

• ClinVar Variation Id: 5648
• ClinVar RCV Id: RCV000006002 ; RCV001385647
• dbSNP Id: rs121908527
• ExAC: 2:241814543 G / A
• gnomAD v2: 2-241814543-G-A
• gnomAD v3: 2-240875126-G-A
• gnomAD v4: 2-240875126-G-A
• MyVariant Identifiers: chr2:g.241814543G>A (hg19) ; chr2:g.240875126G>A (hg38)
• PubMed: PMID:9192270 ; PMID:17495019 ; PMID:18448374 ; PMID:24988064 ; PMID:25629080

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240875126G>A , CM000664.2:g.240875126G>A	GRCh38
NC_000002.11:g.241814543G>A , CM000664.1:g.241814543G>A	GRCh37
NC_000002.10:g.241463216G>A	NCBI36
NG_008005.1:g.11382G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.698G>A MANE Select	ENSP00000302620.3:p.Arg233His
ENST00000307503.3:c.698G>A	ENSP00000302620.3:p.Arg233His
ENST00000476698.1:n.350G>A
NM_000030.2:c.698G>A	NP_000021.1:p.Arg233His
NM_000030.3:c.698G>A MANE Select	NP_000021.1:p.Arg233His