Canonical Allele Identifier: CA1044069074

Gene: AGXT

Linked Data

• dbSNP Id: rs2059018834
• gnomAD v3: 2-240875428-A-G
• gnomAD v4: 2-240875428-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240875428A>G , CM000664.2:g.240875428A>G	GRCh38
NC_000002.11:g.241814845A>G , CM000664.1:g.241814845A>G	GRCh37
NC_000002.10:g.241463518A>G	NCBI36
NG_008005.1:g.11684A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.776+224A>G MANE Select	ENSP00000302620.3:n.776+224A>G
ENST00000307503.3:c.776+224A>G	ENSP00000302620.3:n.776+224A>G
ENST00000476698.1:n.428+224A>G
NM_000030.2:c.776+224A>G	NP_000021.1:n.776+224A>G
NM_000030.3:c.776+224A>G MANE Select	NP_000021.1:n.776+224A>G