Canonical Allele Identifier: CA2664013980
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2106432624
gnomAD v4: 2-240879205-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240879205T>C , CM000664.2:g.240879205T>C GRCh38
NC_000002.11:g.241818622T>C , CM000664.1:g.241818622T>C GRCh37
NC_000002.10:g.241467295T>C NCBI36
NG_008005.1:g.15461T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.*384T>C MANE Select ENSP00000302620.3:n.*384T>C
ENST00000470255.1:n.1341T>C
NM_000030.3:c.*384T>C MANE Select NP_000021.1:n.*384T>C
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