Canonical Allele Identifier: CA275783
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204147
ClinVar RCV Id: RCV000186354 RCV001857592
dbSNP Id: rs180177161
gnomAD v2: 2-241818138-G-A
gnomAD v4: 2-240878721-G-A
MyVariant Identifiers: chr2:g.241818138G>A (hg19) chr2:g.240878721G>A (hg38)
PubMed: PMID:19479957
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878721G>A , CM000664.2:g.240878721G>A GRCh38
NC_000002.11:g.241818138G>A , CM000664.1:g.241818138G>A GRCh37
NC_000002.10:g.241466811G>A NCBI36
NG_008005.1:g.14977G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1079G>A MANE Select ENSP00000302620.3:p.Arg360Gln
ENST00000307503.3:c.1079G>A ENSP00000302620.3:p.Arg360Gln
ENST00000470255.1:n.857G>A
NM_000030.2:c.1079G>A NP_000021.1:p.Arg360Gln
NM_000030.3:c.1079G>A MANE Select NP_000021.1:p.Arg360Gln
Search 100 bp 5'
Search 100 bp 3'