Canonical Allele Identifier: CA351313469
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2681154
ClinVar RCV Id: RCV003468679
MyVariant Identifiers: chr2:g.241808645C>A (hg19) chr2:g.240869228C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869228C>A , CM000664.2:g.240869228C>A GRCh38
NC_000002.11:g.241808645C>A , CM000664.1:g.241808645C>A GRCh37
NC_000002.10:g.241457318C>A NCBI36
NG_008005.1:g.5484C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.224C>A MANE Select ENSP00000302620.3:p.Thr75Lys
ENST00000307503.3:c.224C>A ENSP00000302620.3:p.Thr75Lys
ENST00000472436.1:n.244C>A
NM_000030.2:c.224C>A NP_000021.1:p.Thr75Lys
XR_924060.1:n.405+1005G>T
NM_000030.3:c.224C>A MANE Select NP_000021.1:p.Thr75Lys
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