Canonical Allele Identifier: CA1339331083
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2058979736
gnomAD v4: 2-240869464-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869464C>T , CM000664.2:g.240869464C>T GRCh38
NC_000002.11:g.241808881C>T , CM000664.1:g.241808881C>T GRCh37
NC_000002.10:g.241457554C>T NCBI36
NG_008005.1:g.5720C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.358+102C>T MANE Select ENSP00000302620.3:n.358+102C>T
ENST00000307503.3:c.358+102C>T ENSP00000302620.3:n.358+102C>T
ENST00000472436.1:n.378+102C>T
NM_000030.2:c.358+102C>T NP_000021.1:n.358+102C>T
XR_924060.1:n.405+769G>A
NM_000030.3:c.358+102C>T MANE Select NP_000021.1:n.358+102C>T
Search 100 bp 5'
Search 100 bp 3'