Canonical Allele Identifier: CA1339333231
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1266861430
gnomAD v4: 2-240873312-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873312C>A , CM000664.2:g.240873312C>A GRCh38
NC_000002.11:g.241812729C>A , CM000664.1:g.241812729C>A GRCh37
NC_000002.10:g.241461402C>A NCBI36
NG_008005.1:g.9568C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.595+263C>A MANE Select ENSP00000302620.3:n.595+263C>A
ENST00000307503.3:c.595+263C>A ENSP00000302620.3:n.595+263C>A
ENST00000472436.1:n.878C>A
ENST00000476698.1:n.332+263C>A
NM_000030.2:c.595+263C>A NP_000021.1:n.595+263C>A
NM_000030.3:c.595+263C>A MANE Select NP_000021.1:n.595+263C>A
Search 100 bp 5'
Search 100 bp 3'