Canonical Allele Identifier: CA275674
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204094
ClinVar RCV Id: RCV000186300
dbSNP Id: rs180177208
MyVariant Identifiers: chr2:g.241808770G>T (hg19) chr2:g.240869353G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869353G>T , CM000664.2:g.240869353G>T GRCh38
NC_000002.11:g.241808770G>T , CM000664.1:g.241808770G>T GRCh37
NC_000002.10:g.241457443G>T NCBI36
NG_008005.1:g.5609G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.349G>T MANE Select ENSP00000302620.3:p.Glu117Ter
ENST00000307503.3:c.349G>T ENSP00000302620.3:p.Glu117Ter
ENST00000472436.1:n.369G>T
NM_000030.2:c.349G>T NP_000021.1:p.Glu117Ter
XR_924060.1:n.405+880C>A
NM_000030.3:c.349G>T MANE Select NP_000021.1:p.Glu117Ter
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