Canonical Allele Identifier: CA2664006393
Gene: AGXT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869442A>G , CM000664.2:g.240869442A>G GRCh38
NC_000002.11:g.241808859A>G , CM000664.1:g.241808859A>G GRCh37
NC_000002.10:g.241457532A>G NCBI36
NG_008005.1:g.5698A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.358+80A>G MANE Select ENSP00000302620.3:n.358+80A>G
ENST00000307503.3:c.358+80A>G ENSP00000302620.3:n.358+80A>G
ENST00000472436.1:n.378+80A>G
NM_000030.2:c.358+80A>G NP_000021.1:n.358+80A>G
XR_924060.1:n.405+791T>C
NM_000030.3:c.358+80A>G MANE Select NP_000021.1:n.358+80A>G