Canonical Allele Identifier: CA351318215
Gene: AGXT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.241814594T>A (hg19) chr2:g.240875177T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875177T>A , CM000664.2:g.240875177T>A GRCh38
NC_000002.11:g.241814594T>A , CM000664.1:g.241814594T>A GRCh37
NC_000002.10:g.241463267T>A NCBI36
NG_008005.1:g.11433T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.749T>A MANE Select ENSP00000302620.3:p.Phe250Tyr
ENST00000307503.3:c.749T>A ENSP00000302620.3:p.Phe250Tyr
ENST00000476698.1:n.401T>A
NM_000030.2:c.749T>A NP_000021.1:p.Phe250Tyr
NM_000030.3:c.749T>A MANE Select NP_000021.1:p.Phe250Tyr
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