Canonical Allele Identifier: CA432027202
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 1145192
ClinVar RCV Id: RCV001483964
dbSNP Id: rs1363775610
gnomAD v2: 2-241818211-G-A
gnomAD v4: 2-240878794-G-A
MyVariant Identifiers: chr2:g.241818211G>A (hg19) chr2:g.240878794G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878794G>A , CM000664.2:g.240878794G>A GRCh38
NC_000002.11:g.241818211G>A , CM000664.1:g.241818211G>A GRCh37
NC_000002.10:g.241466884G>A NCBI36
NG_008005.1:g.15050G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1152G>A MANE Select ENSP00000302620.3:p.Leu384=
ENST00000307503.3:c.1152G>A ENSP00000302620.3:p.Leu384=
ENST00000470255.1:n.930G>A
NM_000030.2:c.1152G>A NP_000021.1:p.Leu384=
NM_000030.3:c.1152G>A MANE Select NP_000021.1:p.Leu384=
Search 100 bp 5'
Search 100 bp 3'