Canonical Allele Identifier: CA2664013749
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240879140-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240879140A>C , CM000664.2:g.240879140A>C GRCh38
NC_000002.11:g.241818557A>C , CM000664.1:g.241818557A>C GRCh37
NC_000002.10:g.241467230A>C NCBI36
NG_008005.1:g.15396A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.*319A>C MANE Select ENSP00000302620.3:n.*319A>C
ENST00000470255.1:n.1276A>C
NM_000030.3:c.*319A>C MANE Select NP_000021.1:n.*319A>C
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