Canonical Allele Identifier: CA1339336353
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2059044674
gnomAD v4: 2-240879215-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240879215G>T , CM000664.2:g.240879215G>T GRCh38
NC_000002.11:g.241818632G>T , CM000664.1:g.241818632G>T GRCh37
NC_000002.10:g.241467305G>T NCBI36
NG_008005.1:g.15471G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.*394G>T MANE Select ENSP00000302620.3:n.*394G>T
ENST00000470255.1:n.1351G>T
NM_000030.3:c.*394G>T MANE Select NP_000021.1:n.*394G>T
Search 100 bp 5'
Search 100 bp 3'