Canonical Allele Identifier: CA2754892279
Gene: AGXT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873929C>G , CM000664.2:g.240873929C>G GRCh38
NC_000002.11:g.241813346C>G , CM000664.1:g.241813346C>G GRCh37
NC_000002.10:g.241462019C>G NCBI36
NG_008005.1:g.10185C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.596-49C>G MANE Select ENSP00000302620.3:n.596-49C>G
ENST00000307503.3:c.596-49C>G ENSP00000302620.3:n.596-49C>G
ENST00000476698.1:n.332+880C>G
NM_000030.2:c.596-49C>G NP_000021.1:n.596-49C>G
NM_000030.3:c.596-49C>G MANE Select NP_000021.1:n.596-49C>G