Canonical Allele Identifier: CA351313948
Gene: AGXT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.241808764A>T (hg19) chr2:g.240869347A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869347A>T , CM000664.2:g.240869347A>T GRCh38
NC_000002.11:g.241808764A>T , CM000664.1:g.241808764A>T GRCh37
NC_000002.10:g.241457437A>T NCBI36
NG_008005.1:g.5603A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.343A>T MANE Select ENSP00000302620.3:p.Ile115Phe
ENST00000307503.3:c.343A>T ENSP00000302620.3:p.Ile115Phe
ENST00000472436.1:n.363A>T
NM_000030.2:c.343A>T NP_000021.1:p.Ile115Phe
XR_924060.1:n.405+886T>A
NM_000030.3:c.343A>T MANE Select NP_000021.1:p.Ile115Phe
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