Canonical Allele Identifier: CA275546
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204019
dbSNP Id: rs142969817

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868900A>G , CM000664.2:g.240868900A>G GRCh38
NC_000002.11:g.241808317A>G , CM000664.1:g.241808317A>G GRCh37
NC_000002.10:g.241456990A>G NCBI36
NG_008005.1:g.5156A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.35A>G MANE Select ENSP00000302620.3:p.Lys12Arg
ENST00000307503.3:c.35A>G ENSP00000302620.3:p.Lys12Arg
ENST00000472436.1:n.55A>G
NM_000030.2:c.35A>G NP_000021.1:p.Lys12Arg
XR_924060.1:n.405+1333T>C
NM_000030.3:c.35A>G MANE Select NP_000021.1:p.Lys12Arg