Canonical Allele Identifier: CA351313947
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2058979053
gnomAD v4: 2-240869347-A-G
MyVariant Identifiers: chr2:g.241808764A>G (hg19) chr2:g.240869347A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869347A>G , CM000664.2:g.240869347A>G GRCh38
NC_000002.11:g.241808764A>G , CM000664.1:g.241808764A>G GRCh37
NC_000002.10:g.241457437A>G NCBI36
NG_008005.1:g.5603A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.343A>G MANE Select ENSP00000302620.3:p.Ile115Val
ENST00000307503.3:c.343A>G ENSP00000302620.3:p.Ile115Val
ENST00000472436.1:n.363A>G
NM_000030.2:c.343A>G NP_000021.1:p.Ile115Val
XR_924060.1:n.405+886T>C
NM_000030.3:c.343A>G MANE Select NP_000021.1:p.Ile115Val
Search 100 bp 5'
Search 100 bp 3'