Canonical Allele Identifier: CA2664006457

Gene: AGXT

Linked Data

• gnomAD v4: 2-240873403-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240873403G>C , CM000664.2:g.240873403G>C	GRCh38
NC_000002.11:g.241812820G>C , CM000664.1:g.241812820G>C	GRCh37
NC_000002.10:g.241461493G>C	NCBI36
NG_008005.1:g.9659G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.595+354G>C MANE Select	ENSP00000302620.3:n.595+354G>C
ENST00000307503.3:c.595+354G>C	ENSP00000302620.3:n.595+354G>C
ENST00000472436.1:n.969G>C
ENST00000476698.1:n.332+354G>C
NM_000030.2:c.595+354G>C	NP_000021.1:n.595+354G>C
NM_000030.3:c.595+354G>C MANE Select	NP_000021.1:n.595+354G>C