Canonical Allele Identifier: CA1339335672
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2059036116
gnomAD v4: 2-240877883-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877883G>A , CM000664.2:g.240877883G>A GRCh38
NC_000002.11:g.241817300G>A , CM000664.1:g.241817300G>A GRCh37
NC_000002.10:g.241465973G>A NCBI36
NG_008005.1:g.14139G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.943-139G>A MANE Select ENSP00000302620.3:n.943-139G>A
ENST00000307503.3:c.943-139G>A ENSP00000302620.3:n.943-139G>A
ENST00000470255.1:n.721-139G>A
NM_000030.2:c.943-139G>A NP_000021.1:n.943-139G>A
NM_000030.3:c.943-139G>A MANE Select NP_000021.1:n.943-139G>A
Search 100 bp 5'
Search 100 bp 3'