Canonical Allele Identifier: CA2208963
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs180177191

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.28C>A MANE Select ENSP00000302620.3:p.Pro10Thr
ENST00000307503.3:c.28C>A ENSP00000302620.3:p.Pro10Thr
ENST00000472436.1:n.48C>A
NM_000030.2:c.28C>A NP_000021.1:p.Pro10Thr
XR_924060.1:n.405+1340G>T
NM_000030.3:c.28C>A MANE Select NP_000021.1:p.Pro10Thr