Canonical Allele Identifier: CA1044070821
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1020687663
gnomAD v3: 2-240879224-G-A
gnomAD v4: 2-240879224-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240879224G>A , CM000664.2:g.240879224G>A GRCh38
NC_000002.11:g.241818641G>A , CM000664.1:g.241818641G>A GRCh37
NC_000002.10:g.241467314G>A NCBI36
NG_008005.1:g.15480G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.*403G>A MANE Select ENSP00000302620.3:n.*403G>A
ENST00000470255.1:n.1360G>A
NM_000030.3:c.*403G>A MANE Select NP_000021.1:n.*403G>A
Search 100 bp 5'
Search 100 bp 3'