Canonical Allele Identifier: CA351314031
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 983728
ClinVar RCV Id: RCV001263731
dbSNP Id: rs747043550
MyVariant Identifiers: chr2:g.241808779G>T (hg19) chr2:g.240869362G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869362G>T , CM000664.2:g.240869362G>T GRCh38
NC_000002.11:g.241808779G>T , CM000664.1:g.241808779G>T GRCh37
NC_000002.10:g.241457452G>T NCBI36
NG_008005.1:g.5618G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.358G>T MANE Select ENSP00000302620.3:p.Gly120Ter
ENST00000307503.3:c.358G>T ENSP00000302620.3:p.Gly120Ter
ENST00000472436.1:n.378G>T
NM_000030.2:c.358G>T NP_000021.1:p.Gly120Ter
XR_924060.1:n.405+871C>A
NM_000030.3:c.358G>T MANE Select NP_000021.1:p.Gly120Ter
Search 100 bp 5'
Search 100 bp 3'