Canonical Allele Identifier: CA1339334653
Gene: AGXT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875972C= , CM000664.2:g.240875972C= GRCh38
NC_000002.11:g.241815389C= , CM000664.1:g.241815389C= GRCh37
NC_000002.10:g.241464062C= NCBI36
NG_008005.1:g.12228C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.814C= MANE Select ENSP00000302620.3:p.Leu272=
ENST00000307503.3:c.814C= ENSP00000302620.3:p.Leu272=
ENST00000476698.1:n.466C=
NM_000030.2:c.814C= NP_000021.1:p.Leu272=
NM_000030.3:c.814C= MANE Select NP_000021.1:p.Leu272=
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