Canonical Allele Identifier: CA2664006588

Gene: AGXT

Linked Data

• gnomAD v4: 2-240869480-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869480C>G , CM000664.2:g.240869480C>G	GRCh38
NC_000002.11:g.241808897C>G , CM000664.1:g.241808897C>G	GRCh37
NC_000002.10:g.241457570C>G	NCBI36
NG_008005.1:g.5736C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.358+118C>G MANE Select	ENSP00000302620.3:n.358+118C>G
ENST00000307503.3:c.358+118C>G	ENSP00000302620.3:n.358+118C>G
ENST00000472436.1:n.378+118C>G
NM_000030.2:c.358+118C>G	NP_000021.1:n.358+118C>G
XR_924060.1:n.405+753G>C
NM_000030.3:c.358+118C>G MANE Select	NP_000021.1:n.358+118C>G