Canonical Allele Identifier: CA2607663568
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2106432632
gnomAD v3: 2-240879211-T-C
gnomAD v4: 2-240879211-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240879211T>C , CM000664.2:g.240879211T>C GRCh38
NC_000002.11:g.241818628T>C , CM000664.1:g.241818628T>C GRCh37
NC_000002.10:g.241467301T>C NCBI36
NG_008005.1:g.15467T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.*390T>C MANE Select ENSP00000302620.3:n.*390T>C
ENST00000470255.1:n.1347T>C
NM_000030.3:c.*390T>C MANE Select NP_000021.1:n.*390T>C
Search 100 bp 5'
Search 100 bp 3'