Canonical Allele Identifier: CA914576404
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v2: 2-241814786-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875369C>G , CM000664.2:g.240875369C>G GRCh38
NC_000002.11:g.241814786C>G , CM000664.1:g.241814786C>G GRCh37
NC_000002.10:g.241463459C>G NCBI36
NG_008005.1:g.11625C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.776+165C>G MANE Select ENSP00000302620.3:n.776+165C>G
ENST00000307503.3:c.776+165C>G ENSP00000302620.3:n.776+165C>G
ENST00000476698.1:n.428+165C>G
NM_000030.2:c.776+165C>G NP_000021.1:n.776+165C>G
NM_000030.3:c.776+165C>G MANE Select NP_000021.1:n.776+165C>G
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