Canonical Allele Identifier: CA2664012047
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240878202-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878202T>C , CM000664.2:g.240878202T>C GRCh38
NC_000002.11:g.241817619T>C , CM000664.1:g.241817619T>C GRCh37
NC_000002.10:g.241466292T>C NCBI36
NG_008005.1:g.14458T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1071+52T>C MANE Select ENSP00000302620.3:n.1071+52T>C
ENST00000307503.3:c.1071+52T>C ENSP00000302620.3:n.1071+52T>C
ENST00000470255.1:n.849+52T>C
NM_000030.2:c.1071+52T>C NP_000021.1:n.1071+52T>C
NM_000030.3:c.1071+52T>C MANE Select NP_000021.1:n.1071+52T>C
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