Canonical Allele Identifier: CA2558668879
Gene: AGXT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240879148G>C , CM000664.2:g.240879148G>C GRCh38
NC_000002.11:g.241818565G>C , CM000664.1:g.241818565G>C GRCh37
NC_000002.10:g.241467238G>C NCBI36
NG_008005.1:g.15404G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.*327G>C MANE Select ENSP00000302620.3:n.*327G>C
ENST00000470255.1:n.1284G>C
NM_000030.3:c.*327G>C MANE Select NP_000021.1:n.*327G>C
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