Canonical Allele Identifier: CA351316598
Gene: AGXT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.241812449T>A (hg19) chr2:g.240873032T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873032T>A , CM000664.2:g.240873032T>A GRCh38
NC_000002.11:g.241812449T>A , CM000664.1:g.241812449T>A GRCh37
NC_000002.10:g.241461122T>A NCBI36
NG_008005.1:g.9288T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.578T>A MANE Select ENSP00000302620.3:p.Leu193His
ENST00000307503.3:c.578T>A ENSP00000302620.3:p.Leu193His
ENST00000472436.1:n.598T>A
ENST00000476698.1:n.315T>A
NM_000030.2:c.578T>A NP_000021.1:p.Leu193His
NM_000030.3:c.578T>A MANE Select NP_000021.1:p.Leu193His
Search 100 bp 5'
Search 100 bp 3'