Canonical Allele Identifier: CA275621
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204069
dbSNP Id: rs34116584

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868897C>G , CM000664.2:g.240868897C>G GRCh38
NC_000002.11:g.241808314C>G , CM000664.1:g.241808314C>G GRCh37
NC_000002.10:g.241456987C>G NCBI36
NG_008005.1:g.5153C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.32C>G MANE Select ENSP00000302620.3:p.Pro11Arg
ENST00000307503.3:c.32C>G ENSP00000302620.3:p.Pro11Arg
ENST00000472436.1:n.52C>G
NM_000030.2:c.32C>G NP_000021.1:p.Pro11Arg
XR_924060.1:n.405+1336G>C
NM_000030.3:c.32C>G MANE Select NP_000021.1:p.Pro11Arg