Canonical Allele Identifier: CA2664005954
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240873168-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873168C>T , CM000664.2:g.240873168C>T GRCh38
NC_000002.11:g.241812585C>T , CM000664.1:g.241812585C>T GRCh37
NC_000002.10:g.241461258C>T NCBI36
NG_008005.1:g.9424C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.595+119C>T MANE Select ENSP00000302620.3:n.595+119C>T
ENST00000307503.3:c.595+119C>T ENSP00000302620.3:n.595+119C>T
ENST00000472436.1:n.734C>T
ENST00000476698.1:n.332+119C>T
NM_000030.2:c.595+119C>T NP_000021.1:n.595+119C>T
NM_000030.3:c.595+119C>T MANE Select NP_000021.1:n.595+119C>T
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