Canonical Allele Identifier: CA432234736
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 1587675
ClinVar RCV Id: RCV002103461
dbSNP Id: rs180177188
MyVariant Identifiers: chr2:g.241808309C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868892C>T , CM000664.2:g.240868892C>T GRCh38
NC_000002.11:g.241808309C>T , CM000664.1:g.241808309C>T GRCh37
NC_000002.10:g.241456982C>T NCBI36
NG_008005.1:g.5148C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.27C>T MANE Select ENSP00000302620.3:p.Thr9=
ENST00000307503.3:c.27C>T ENSP00000302620.3:p.Thr9=
ENST00000472436.1:n.47C>T
NM_000030.2:c.27C>T NP_000021.1:p.Thr9=
XR_924060.1:n.405+1341G>A
NM_000030.3:c.27C>T MANE Select NP_000021.1:p.Thr9=