Canonical Allele Identifier: CA1339331056
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1575707549
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869417T>A , CM000664.2:g.240869417T>A GRCh38
NC_000002.11:g.241808834T>A , CM000664.1:g.241808834T>A GRCh37
NC_000002.10:g.241457507T>A NCBI36
NG_008005.1:g.5673T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.358+55T>A MANE Select ENSP00000302620.3:n.358+55T>A
ENST00000307503.3:c.358+55T>A ENSP00000302620.3:n.358+55T>A
ENST00000472436.1:n.378+55T>A
NM_000030.2:c.358+55T>A NP_000021.1:n.358+55T>A
XR_924060.1:n.405+816A>T
NM_000030.3:c.358+55T>A MANE Select NP_000021.1:n.358+55T>A
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