Canonical Allele Identifier: CA275741
Gene: AGXT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 204129
ClinVar RCV Id: RCV000186335
dbSNP Id: rs146525143

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875980G>C , CM000664.2:g.240875980G>C GRCh38
NC_000002.11:g.241815397G>C , CM000664.1:g.241815397G>C GRCh37
NC_000002.10:g.241464070G>C NCBI36
NG_008005.1:g.12236G>C

Transcript Alleles

HGVS Amino-acid change
NM_000030.2:c.822G>C VV NP_000021.1:p.Glu274Asp
NM_000030.3:c.822G>C VV MANE Preferred NP_000021.1:p.Glu274Asp
ENST00000307503.3:c.822G>C ENSP00000302620.3:p.Glu274Asp
ENST00000476698.1:n.474G>C