Canonical Allele Identifier: CA916813801

Gene: AGXT

Linked Data

• dbSNP Id: rs952352127
• gnomAD v4: 2-240873392-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240873398dup , CM000664.2:g.240873398dup	GRCh38
NC_000002.11:g.241812815dup , CM000664.1:g.241812815dup	GRCh37
NC_000002.10:g.241461488dup	NCBI36
NG_008005.1:g.9654dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.595+349dup MANE Select	ENSP00000302620.3:n.595+349dup
ENST00000307503.3:c.595+349dup	ENSP00000302620.3:n.595+349dup
ENST00000472436.1:n.964dup
ENST00000476698.1:n.332+349dup
NM_000030.2:c.595+349dup	NP_000021.1:n.595+349dup
NM_000030.3:c.595+349dup MANE Select	NP_000021.1:n.595+349dup