Canonical Allele Identifier: CA432234719
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 1091620
ClinVar RCV Id: RCV001411160
dbSNP Id: rs1455078510
MyVariant Identifiers: chr2:g.241808303G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868886G>T , CM000664.2:g.240868886G>T GRCh38
NC_000002.11:g.241808303G>T , CM000664.1:g.241808303G>T GRCh37
NC_000002.10:g.241456976G>T NCBI36
NG_008005.1:g.5142G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.21G>T MANE Select ENSP00000302620.3:p.Leu7=
ENST00000307503.3:c.21G>T ENSP00000302620.3:p.Leu7=
ENST00000472436.1:n.41G>T
NM_000030.2:c.21G>T NP_000021.1:p.Leu7=
XR_924060.1:n.405+1347C>A
NM_000030.3:c.21G>T MANE Select NP_000021.1:p.Leu7=