Canonical Allele Identifier: CA432027286
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2823127
ClinVar RCV Id: RCV003714420
gnomAD v4: 2-240878818-G-C
MyVariant Identifiers: chr2:g.241818235G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878818G>C , CM000664.2:g.240878818G>C GRCh38
NC_000002.11:g.241818235G>C , CM000664.1:g.241818235G>C GRCh37
NC_000002.10:g.241466908G>C NCBI36
NG_008005.1:g.15074G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1176G>C MANE Select ENSP00000302620.3:p.Leu392=
ENST00000307503.3:c.1176G>C ENSP00000302620.3:p.Leu392=
ENST00000470255.1:n.954G>C
NM_000030.2:c.1176G>C NP_000021.1:p.Leu392=
NM_000030.3:c.1176G>C MANE Select NP_000021.1:p.Leu392=
Search 100 bp 5'
Search 100 bp 3'