Canonical Allele Identifier: CA2208964
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 383367
ClinVar RCV Id: RCV000425921
dbSNP Id: rs180177191

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868893C>G , CM000664.2:g.240868893C>G GRCh38
NC_000002.11:g.241808310C>G , CM000664.1:g.241808310C>G GRCh37
NC_000002.10:g.241456983C>G NCBI36
NG_008005.1:g.5149C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.28C>G MANE Select ENSP00000302620.3:p.Pro10Ala
ENST00000307503.3:c.28C>G ENSP00000302620.3:p.Pro10Ala
ENST00000472436.1:n.48C>G
NM_000030.2:c.28C>G NP_000021.1:p.Pro10Ala
XR_924060.1:n.405+1340G>C
NM_000030.3:c.28C>G MANE Select NP_000021.1:p.Pro10Ala