Canonical Allele Identifier: CA340445

Gene: AGXT

Linked Data

• ClinVar Variation Id: 5646
• ClinVar RCV Id: RCV000006000 ; RCV000586265 ; RCV000662316 ; RCV001042614 ; RCV003407286
• dbSNP Id: rs121908525
• ExAC: 2:241814576 T / C
• gnomAD v2: 2-241814576-T-C
• gnomAD v3: 2-240875159-T-C
• gnomAD v4: 2-240875159-T-C
• MyVariant Identifiers: chr2:g.241814576T>C (hg19) ; chr2:g.240875159T>C (hg38)
• PubMed: PMID:9192270 ; PMID:10960483 ; PMID:12777626 ; PMID:15327387 ; PMID:17460142 ; PMID:20301460 ; PMID:23229545

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240875159T>C , CM000664.2:g.240875159T>C	GRCh38
NC_000002.11:g.241814576T>C , CM000664.1:g.241814576T>C	GRCh37
NC_000002.10:g.241463249T>C	NCBI36
NG_008005.1:g.11415T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.731T>C MANE Select	ENSP00000302620.3:p.Ile244Thr
ENST00000307503.3:c.731T>C	ENSP00000302620.3:p.Ile244Thr
ENST00000476698.1:n.383T>C
NM_000030.2:c.731T>C	NP_000021.1:p.Ile244Thr
NM_000030.3:c.731T>C MANE Select	NP_000021.1:p.Ile244Thr