Canonical Allele Identifier: CA275619
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204068
ClinVar RCV Id: RCV000186274
dbSNP Id: rs180177191

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.28C>T MANE Select ENSP00000302620.3:p.Pro10Ser
ENST00000307503.3:c.28C>T ENSP00000302620.3:p.Pro10Ser
ENST00000472436.1:n.48C>T
NM_000030.2:c.28C>T NP_000021.1:p.Pro10Ser
XR_924060.1:n.405+1340G>A
NM_000030.3:c.28C>T MANE Select NP_000021.1:p.Pro10Ser