Canonical Allele Identifier: CA351319239
Gene: AGXT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.241817006G>C (hg19) chr2:g.240877589G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877589G>C , CM000664.2:g.240877589G>C GRCh38
NC_000002.11:g.241817006G>C , CM000664.1:g.241817006G>C GRCh37
NC_000002.10:g.241465679G>C NCBI36
NG_008005.1:g.13845G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.899G>C MANE Select ENSP00000302620.3:p.Gly300Ala
ENST00000307503.3:c.899G>C ENSP00000302620.3:p.Gly300Ala
ENST00000470255.1:n.677G>C
NM_000030.2:c.899G>C NP_000021.1:p.Gly300Ala
NM_000030.3:c.899G>C MANE Select NP_000021.1:p.Gly300Ala
Search 100 bp 5'
Search 100 bp 3'