Canonical Allele Identifier: CA275695
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204104
ClinVar RCV Id: RCV000186310
dbSNP Id: rs180177225
gnomAD v2: 2-241810815-C-A
gnomAD v4: 2-240871398-C-A
MyVariant Identifiers: chr2:g.241810815C>A (hg19) chr2:g.240871398C>A (hg38)
PubMed: PMID:19479957
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240871398C>A , CM000664.2:g.240871398C>A GRCh38
NC_000002.11:g.241810815C>A , CM000664.1:g.241810815C>A GRCh37
NC_000002.10:g.241459488C>A NCBI36
NG_008005.1:g.7654C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.473C>A MANE Select ENSP00000302620.3:p.Ser158Ter
ENST00000307503.3:c.473C>A ENSP00000302620.3:p.Ser158Ter
ENST00000472436.1:n.493C>A
ENST00000476698.1:n.210C>A
NM_000030.2:c.473C>A NP_000021.1:p.Ser158Ter
NM_000030.3:c.473C>A MANE Select NP_000021.1:p.Ser158Ter
Search 100 bp 5'
Search 100 bp 3'