Canonical Allele Identifier: CA1339330543
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2058972905
gnomAD v4: 2-240868481-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868481C>T , CM000664.2:g.240868481C>T GRCh38
NC_000002.11:g.241807898C>T , CM000664.1:g.241807898C>T GRCh37
NC_000002.10:g.241456571C>T NCBI36
NG_008005.1:g.4737C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.3:c.-385C>T ENSP00000302620.3:n.-385C>T
XR_924060.1:n.405+1752G>A
Search 100 bp 5'
Search 100 bp 3'