Canonical Allele Identifier: CA2664014039
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240879235-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240879235C>T , CM000664.2:g.240879235C>T GRCh38
NC_000002.11:g.241818652C>T , CM000664.1:g.241818652C>T GRCh37
NC_000002.10:g.241467325C>T NCBI36
NG_008005.1:g.15491C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.*414C>T MANE Select ENSP00000302620.3:n.*414C>T
ENST00000470255.1:n.1371C>T
NM_000030.3:c.*414C>T MANE Select NP_000021.1:n.*414C>T
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