Canonical Allele Identifier: CA351313171

Gene: AGXT

Linked Data

• ClinVar Variation Id: 2203295
• ClinVar RCV Id: RCV002664289 ; RCV003466000
• gnomAD v4: 2-240868986-G-C
• COSMIC: COSM4444006
• MyVariant Identifiers: chr2:g.241808403G>C (hg19) ; chr2:g.240868986G>C (hg38)

Genomic Alleles

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

Transcript Alleles

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