Canonical Allele Identifier: CA351313955
Gene: AGXT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.241808765T>G (hg19) chr2:g.240869348T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869348T>G , CM000664.2:g.240869348T>G GRCh38
NC_000002.11:g.241808765T>G , CM000664.1:g.241808765T>G GRCh37
NC_000002.10:g.241457438T>G NCBI36
NG_008005.1:g.5604T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.344T>G MANE Select ENSP00000302620.3:p.Ile115Ser
ENST00000307503.3:c.344T>G ENSP00000302620.3:p.Ile115Ser
ENST00000472436.1:n.364T>G
NM_000030.2:c.344T>G NP_000021.1:p.Ile115Ser
XR_924060.1:n.405+885A>C
NM_000030.3:c.344T>G MANE Select NP_000021.1:p.Ile115Ser
Search 100 bp 5'
Search 100 bp 3'