Canonical Allele Identifier: CA2664013849
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240879164-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240879164C>G , CM000664.2:g.240879164C>G GRCh38
NC_000002.11:g.241818581C>G , CM000664.1:g.241818581C>G GRCh37
NC_000002.10:g.241467254C>G NCBI36
NG_008005.1:g.15420C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.*343C>G MANE Select ENSP00000302620.3:n.*343C>G
ENST00000470255.1:n.1300C>G
NM_000030.3:c.*343C>G MANE Select NP_000021.1:n.*343C>G
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