Canonical Allele Identifier: CA275655
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204085
ClinVar RCV Id: RCV000186291
dbSNP Id: rs180177186

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869252A>G , CM000664.2:g.240869252A>G GRCh38
NC_000002.11:g.241808669A>G , CM000664.1:g.241808669A>G GRCh37
NC_000002.10:g.241457342A>G NCBI36
NG_008005.1:g.5508A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.248A>G MANE Select ENSP00000302620.3:p.His83Arg
ENST00000307503.3:c.248A>G ENSP00000302620.3:p.His83Arg
ENST00000472436.1:n.268A>G
NM_000030.2:c.248A>G NP_000021.1:p.His83Arg
XR_924060.1:n.405+981T>C
NM_000030.3:c.248A>G MANE Select NP_000021.1:p.His83Arg