Canonical Allele Identifier: CA337235033
Gene: PLXNB3 HGNC NCBI
COSMIC:
COSM3759413 (not active)
COSM3759414 (not active)
COSM3759415 (not active)
MyVariant.info:
GRCh38 chrX:g.153774047G>C
gnomAD v3:
X:153774047 G / C
gnomAD v4:
chrX-153774047-G-C
Joint Max Group AF 0.80980727 (AMR)
Genomes Max Group AF 0.79154584 (SAS)
Exomes Max Group AF 0.81516593 (AMR)
dbSNP:
6643791
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153774047G>C , CM000685.2:g.153774047G>C GRCh38
NC_000023.9:g.152692696G>C NCBI36
NG_013255.1:g.14852G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361971.10:c.3468G>C MANE Select ENSP00000355378.5:p.Glu1156Asp
ENST00000361971.9:c.3468G>C ENSP00000355378.5:p.Glu1156Asp
ENST00000538966.5:c.3537G>C ENSP00000442736.1:p.Glu1179Asp
NM_001163257.1:c.3537G>C NP_001156729.1:p.Glu1179Asp
NM_005393.2:c.3468G>C NP_005384.2:p.Glu1156Asp
NM_005393.3:c.3468G>C MANE Select NP_005384.2:p.Glu1156Asp
NM_001163257.2:c.3537G>C NP_001156729.1:p.Glu1179Asp
Search 100 bp 5'
Search 100 bp 3'