Canonical Allele Identifier: CA203554

Gene: AGXT

Linked Data

• ClinVar Variation Id: 198686
• ClinVar RCV Id: RCV000180093 ; RCV000186256 ; RCV000966394 ; RCV003937630
• dbSNP Id: rs140992177
• ExAC: 2:241815411 T / C
• gnomAD v2: 2-241815411-T-C
• gnomAD v3: 2-240875994-T-C
• gnomAD v4: 2-240875994-T-C
• MyVariant Identifiers: chr2:g.241815411T>C (hg19) ; chr2:g.240875994T>C (hg38)
• PubMed: PMID:15963748 ; PMID:17460142 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240875994T>C , CM000664.2:g.240875994T>C	GRCh38
NC_000002.11:g.241815411T>C , CM000664.1:g.241815411T>C	GRCh37
NC_000002.10:g.241464084T>C	NCBI36
NG_008005.1:g.12250T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.836T>C MANE Select	ENSP00000302620.3:p.Ile279Thr
ENST00000307503.3:c.836T>C	ENSP00000302620.3:p.Ile279Thr
ENST00000476698.1:n.488T>C
NM_000030.2:c.836T>C	NP_000021.1:p.Ile279Thr
NM_000030.3:c.836T>C MANE Select	NP_000021.1:p.Ile279Thr