Canonical Allele Identifier: CA2754891932
Gene: AGXT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869396A>G , CM000664.2:g.240869396A>G GRCh38
NC_000002.11:g.241808813A>G , CM000664.1:g.241808813A>G GRCh37
NC_000002.10:g.241457486A>G NCBI36
NG_008005.1:g.5652A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.358+34A>G MANE Select ENSP00000302620.3:n.358+34A>G
ENST00000307503.3:c.358+34A>G ENSP00000302620.3:n.358+34A>G
ENST00000472436.1:n.378+34A>G
NM_000030.2:c.358+34A>G NP_000021.1:n.358+34A>G
XR_924060.1:n.405+837T>C
NM_000030.3:c.358+34A>G MANE Select NP_000021.1:n.358+34A>G