Canonical Allele Identifier: CA275627
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204072
ClinVar RCV Id: RCV001383728
dbSNP Id: rs180177162
ExAC: 2:241808389 G / A
gnomAD v2: 2-241808389-G-A
gnomAD v4: 2-240868972-G-A
MyVariant Identifiers: chr2:g.241808389G>A (hg19) chr2:g.240868972G>A (hg38)
PubMed: PMID:19479957
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868972G>A , CM000664.2:g.240868972G>A GRCh38
NC_000002.11:g.241808389G>A , CM000664.1:g.241808389G>A GRCh37
NC_000002.10:g.241457062G>A NCBI36
NG_008005.1:g.5228G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.107G>A MANE Select ENSP00000302620.3:p.Arg36His
ENST00000307503.3:c.107G>A ENSP00000302620.3:p.Arg36His
ENST00000472436.1:n.127G>A
NM_000030.2:c.107G>A NP_000021.1:p.Arg36His
XR_924060.1:n.405+1261C>T
NM_000030.3:c.107G>A MANE Select NP_000021.1:p.Arg36His
Search 100 bp 5'
Search 100 bp 3'