Canonical Allele Identifier: CA340446
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 5647
dbSNP Id: rs121908526

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875125C>T , CM000664.2:g.240875125C>T GRCh38
NC_000002.11:g.241814542C>T , CM000664.1:g.241814542C>T GRCh37
NC_000002.10:g.241463215C>T NCBI36
NG_008005.1:g.11381C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.697C>T MANE Select ENSP00000302620.3:p.Arg233Cys
ENST00000307503.3:c.697C>T ENSP00000302620.3:p.Arg233Cys
ENST00000476698.1:n.349C>T
NM_000030.2:c.697C>T NP_000021.1:p.Arg233Cys
NM_000030.3:c.697C>T MANE Select NP_000021.1:p.Arg233Cys