Canonical Allele Identifier: CA351319809
Gene: AGXT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.241818179G>A (hg19) chr2:g.240878762G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878762G>A , CM000664.2:g.240878762G>A GRCh38
NC_000002.11:g.241818179G>A , CM000664.1:g.241818179G>A GRCh37
NC_000002.10:g.241466852G>A NCBI36
NG_008005.1:g.15018G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1120G>A MANE Select ENSP00000302620.3:p.Asp374Asn
ENST00000307503.3:c.1120G>A ENSP00000302620.3:p.Asp374Asn
ENST00000470255.1:n.898G>A
NM_000030.2:c.1120G>A NP_000021.1:p.Asp374Asn
NM_000030.3:c.1120G>A MANE Select NP_000021.1:p.Asp374Asn
Search 100 bp 5'
Search 100 bp 3'