Canonical Allele Identifier: CA1339333640
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs879179547
gnomAD v4: 2-240874130-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240874130C>A , CM000664.2:g.240874130C>A GRCh38
NC_000002.11:g.241813547C>A , CM000664.1:g.241813547C>A GRCh37
NC_000002.10:g.241462220C>A NCBI36
NG_008005.1:g.10386C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.680+68C>A MANE Select ENSP00000302620.3:n.680+68C>A
ENST00000307503.3:c.680+68C>A ENSP00000302620.3:n.680+68C>A
ENST00000476698.1:n.333-979C>A
NM_000030.2:c.680+68C>A NP_000021.1:n.680+68C>A
NM_000030.3:c.680+68C>A MANE Select NP_000021.1:n.680+68C>A
Search 100 bp 5'
Search 100 bp 3'