Canonical Allele Identifier: CA275654
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204084
ClinVar RCV Id: RCV000186290
dbSNP Id: rs180177185

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869248G>C , CM000664.2:g.240869248G>C GRCh38
NC_000002.11:g.241808665G>C , CM000664.1:g.241808665G>C GRCh37
NC_000002.10:g.241457338G>C NCBI36
NG_008005.1:g.5504G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.244G>C MANE Select ENSP00000302620.3:p.Gly82Arg
ENST00000307503.3:c.244G>C ENSP00000302620.3:p.Gly82Arg
ENST00000472436.1:n.264G>C
NM_000030.2:c.244G>C NP_000021.1:p.Gly82Arg
XR_924060.1:n.405+985C>G
NM_000030.3:c.244G>C MANE Select NP_000021.1:p.Gly82Arg