Canonical Allele Identifier: CA275700
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204106
ClinVar RCV Id: RCV000186312
dbSNP Id: rs180177227
MyVariant Identifiers: chr2:g.241810823G>C (hg19) chr2:g.240871406G>C (hg38)
PubMed: PMID:15963748 PMID:24718375
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240871406G>C , CM000664.2:g.240871406G>C GRCh38
NC_000002.11:g.241810823G>C , CM000664.1:g.241810823G>C GRCh37
NC_000002.10:g.241459496G>C NCBI36
NG_008005.1:g.7662G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.481G>C MANE Select ENSP00000302620.3:p.Gly161Arg
ENST00000307503.3:c.481G>C ENSP00000302620.3:p.Gly161Arg
ENST00000472436.1:n.501G>C
ENST00000476698.1:n.218G>C
NM_000030.2:c.481G>C NP_000021.1:p.Gly161Arg
NM_000030.3:c.481G>C MANE Select NP_000021.1:p.Gly161Arg
Search 100 bp 5'
Search 100 bp 3'