Canonical Allele Identifier: CA275623
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204070
ClinVar RCV Id: RCV000186276
dbSNP Id: rs180177262

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868939T>G , CM000664.2:g.240868939T>G GRCh38
NC_000002.11:g.241808356T>G , CM000664.1:g.241808356T>G GRCh37
NC_000002.10:g.241457029T>G NCBI36
NG_008005.1:g.5195T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.74T>G MANE Select ENSP00000302620.3:p.Leu25Arg
ENST00000307503.3:c.74T>G ENSP00000302620.3:p.Leu25Arg
ENST00000472436.1:n.94T>G
NM_000030.2:c.74T>G NP_000021.1:p.Leu25Arg
XR_924060.1:n.405+1294A>C
NM_000030.3:c.74T>G MANE Select NP_000021.1:p.Leu25Arg