Canonical Allele Identifier: CA351319725
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878717C>G , CM000664.2:g.240878717C>G GRCh38
NC_000002.11:g.241818134C>G , CM000664.1:g.241818134C>G GRCh37
NC_000002.10:g.241466807C>G NCBI36
NG_008005.1:g.14973C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1075C>G MANE Select ENSP00000302620.3:p.Leu359Val
ENST00000307503.3:c.1075C>G ENSP00000302620.3:p.Leu359Val
ENST00000470255.1:n.853C>G
NM_000030.2:c.1075C>G NP_000021.1:p.Leu359Val
NM_000030.3:c.1075C>G MANE Select NP_000021.1:p.Leu359Val