Canonical Allele Identifier: CA351319843
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240878780-C-A
MyVariant Identifiers: chr2:g.241818197C>A (hg19) chr2:g.240878780C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878780C>A , CM000664.2:g.240878780C>A GRCh38
NC_000002.11:g.241818197C>A , CM000664.1:g.241818197C>A GRCh37
NC_000002.10:g.241466870C>A NCBI36
NG_008005.1:g.15036C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1138C>A MANE Select ENSP00000302620.3:p.Leu380Met
ENST00000307503.3:c.1138C>A ENSP00000302620.3:p.Leu380Met
ENST00000470255.1:n.916C>A
NM_000030.2:c.1138C>A NP_000021.1:p.Leu380Met
NM_000030.3:c.1138C>A MANE Select NP_000021.1:p.Leu380Met
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