Canonical Allele Identifier: CA2209224
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs745637624

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875168T>G , CM000664.2:g.240875168T>G GRCh38
NC_000002.11:g.241814585T>G , CM000664.1:g.241814585T>G GRCh37
NC_000002.10:g.241463258T>G NCBI36
NG_008005.1:g.11424T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.740T>G MANE Select ENSP00000302620.3:p.Leu247Arg
ENST00000307503.3:c.740T>G ENSP00000302620.3:p.Leu247Arg
ENST00000476698.1:n.392T>G
NM_000030.2:c.740T>G NP_000021.1:p.Leu247Arg
NM_000030.3:c.740T>G MANE Select NP_000021.1:p.Leu247Arg