Canonical Allele Identifier: CA351313427
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 1335452
ClinVar RCV Id: RCV001816298
dbSNP Id: rs2106427539
MyVariant Identifiers: chr2:g.241808624T>C (hg19) chr2:g.240869207T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869207T>C , CM000664.2:g.240869207T>C GRCh38
NC_000002.11:g.241808624T>C , CM000664.1:g.241808624T>C GRCh37
NC_000002.10:g.241457297T>C NCBI36
NG_008005.1:g.5463T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.203T>C MANE Select ENSP00000302620.3:p.Phe68Ser
ENST00000307503.3:c.203T>C ENSP00000302620.3:p.Phe68Ser
ENST00000472436.1:n.223T>C
NM_000030.2:c.203T>C NP_000021.1:p.Phe68Ser
XR_924060.1:n.405+1026A>G
NM_000030.3:c.203T>C MANE Select NP_000021.1:p.Phe68Ser
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