Canonical Allele Identifier: CA275743

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204130
• ClinVar RCV Id: RCV000186336 ; RCV004525892 ; RCV004539733
• dbSNP Id: rs180177272
• MyVariant Identifiers: chr2:g.241815398A>C (hg19) ; chr2:g.240875981A>C (hg38)
• PubMed: PMID:19479957 ; PMID:22923379

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240875981A>C , CM000664.2:g.240875981A>C	GRCh38
NC_000002.11:g.241815398A>C , CM000664.1:g.241815398A>C	GRCh37
NC_000002.10:g.241464071A>C	NCBI36
NG_008005.1:g.12237A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.823A>C MANE Select	ENSP00000302620.3:p.Ser275Arg
ENST00000307503.3:c.823A>C	ENSP00000302620.3:p.Ser275Arg
ENST00000476698.1:n.475A>C
NM_000030.2:c.823A>C	NP_000021.1:p.Ser275Arg
NM_000030.3:c.823A>C MANE Select	NP_000021.1:p.Ser275Arg