Canonical Allele Identifier: CA2664014057
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240879238-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240879238G>A , CM000664.2:g.240879238G>A GRCh38
NC_000002.11:g.241818655G>A , CM000664.1:g.241818655G>A GRCh37
NC_000002.10:g.241467328G>A NCBI36
NG_008005.1:g.15494G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.*417G>A MANE Select ENSP00000302620.3:n.*417G>A
ENST00000470255.1:n.1374G>A
NM_000030.3:c.*417G>A MANE Select NP_000021.1:n.*417G>A
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