Canonical Allele Identifier: CA351319740
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v4: 2-240878727-G-A
MyVariant Identifiers: chr2:g.241818144G>A (hg19) chr2:g.240878727G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878727G>A , CM000664.2:g.240878727G>A GRCh38
NC_000002.11:g.241818144G>A , CM000664.1:g.241818144G>A GRCh37
NC_000002.10:g.241466817G>A NCBI36
NG_008005.1:g.14983G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.1085G>A MANE Select ENSP00000302620.3:p.Gly362Asp
ENST00000307503.3:c.1085G>A ENSP00000302620.3:p.Gly362Asp
ENST00000470255.1:n.863G>A
NM_000030.2:c.1085G>A NP_000021.1:p.Gly362Asp
NM_000030.3:c.1085G>A MANE Select NP_000021.1:p.Gly362Asp
Search 100 bp 5'
Search 100 bp 3'