Canonical Allele Identifier: CA275555
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204022
ClinVar RCV Id: RCV000186226
dbSNP Id: rs180177175

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869113C>T , CM000664.2:g.240869113C>T GRCh38
NC_000002.11:g.241808530C>T , CM000664.1:g.241808530C>T GRCh37
NC_000002.10:g.241457203C>T NCBI36
NG_008005.1:g.5369C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.166-57C>T MANE Select ENSP00000302620.3:n.166-57C>T
ENST00000307503.3:c.166-57C>T ENSP00000302620.3:n.166-57C>T
ENST00000472436.1:n.186-57C>T
NM_000030.2:c.166-57C>T NP_000021.1:n.166-57C>T
XR_924060.1:n.405+1120G>A
NM_000030.3:c.166-57C>T MANE Select NP_000021.1:n.166-57C>T