Canonical Allele Identifier: CA351316580
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 1510061
ClinVar RCV Id: RCV002042967
dbSNP Id: rs2106429472
MyVariant Identifiers: chr2:g.241812440G>C (hg19) chr2:g.240873023G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873023G>C , CM000664.2:g.240873023G>C GRCh38
NC_000002.11:g.241812440G>C , CM000664.1:g.241812440G>C GRCh37
NC_000002.10:g.241461113G>C NCBI36
NG_008005.1:g.9279G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.569G>C MANE Select ENSP00000302620.3:p.Gly190Ala
ENST00000307503.3:c.569G>C ENSP00000302620.3:p.Gly190Ala
ENST00000472436.1:n.589G>C
ENST00000476698.1:n.306G>C
NM_000030.2:c.569G>C NP_000021.1:p.Gly190Ala
NM_000030.3:c.569G>C MANE Select NP_000021.1:p.Gly190Ala
Search 100 bp 5'
Search 100 bp 3'