Canonical Allele Identifier: CA2664006330

Gene: AGXT

Linked Data

• gnomAD v4: 2-240869427-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869427C>G , CM000664.2:g.240869427C>G	GRCh38
NC_000002.11:g.241808844C>G , CM000664.1:g.241808844C>G	GRCh37
NC_000002.10:g.241457517C>G	NCBI36
NG_008005.1:g.5683C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.358+65C>G MANE Select	ENSP00000302620.3:n.358+65C>G
ENST00000307503.3:c.358+65C>G	ENSP00000302620.3:n.358+65C>G
ENST00000472436.1:n.378+65C>G
NM_000030.2:c.358+65C>G	NP_000021.1:n.358+65C>G
XR_924060.1:n.405+806G>C
NM_000030.3:c.358+65C>G MANE Select	NP_000021.1:n.358+65C>G