Canonical Allele Identifier: CA2209028
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 1135728
ClinVar RCV Id: RCV001471164
dbSNP Id: rs377564684

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869162G>A , CM000664.2:g.240869162G>A GRCh38
NC_000002.11:g.241808579G>A , CM000664.1:g.241808579G>A GRCh37
NC_000002.10:g.241457252G>A NCBI36
NG_008005.1:g.5418G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.166-8G>A MANE Select ENSP00000302620.3:n.166-8G>A
ENST00000307503.3:c.166-8G>A ENSP00000302620.3:n.166-8G>A
ENST00000472436.1:n.186-8G>A
NM_000030.2:c.166-8G>A NP_000021.1:n.166-8G>A
XR_924060.1:n.405+1071C>T
NM_000030.3:c.166-8G>A MANE Select NP_000021.1:n.166-8G>A