Canonical Allele Identifier: CA351319861
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878790C>G , CM000664.2:g.240878790C>G GRCh38
NC_000002.11:g.241818207C>G , CM000664.1:g.241818207C>G GRCh37
NC_000002.10:g.241466880C>G NCBI36
NG_008005.1:g.15046C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1148C>G MANE Select ENSP00000302620.3:p.Ala383Gly
ENST00000307503.3:c.1148C>G ENSP00000302620.3:p.Ala383Gly
ENST00000470255.1:n.926C>G
NM_000030.2:c.1148C>G NP_000021.1:p.Ala383Gly
NM_000030.3:c.1148C>G MANE Select NP_000021.1:p.Ala383Gly