Canonical Allele Identifier: CA10550953
Gene: PLXNB3 HGNC NCBI
COSMIC:
COSM1466598 (not active)
COSM4997876
COSM4997877
MyVariant.info:
GRCh38 chrX:g.153770343G>A
GRCh37 chrX:g.153035798G>A
Revel Score:
ENST00000538966 0.017
ENST00000361971 (MANE Select) 0.017
ENST00000538776 0.017
ENST00000538543 0.017
ENST00000538282 0.017
gnomAD v2:
X:153035798 G / A
gnomAD v3:
X:153770343 G / A
gnomAD v4:
chrX-153770343-G-A
Joint Max Group AF 0.67141376 (NFE)
Genomes Max Group AF 0.64745372 (NFE)
Exomes Max Group AF 0.67260097 (NFE)
dbSNP:
2266879
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153770343G>A , CM000685.2:g.153770343G>A GRCh38
NC_000023.10:g.153035798G>A , CM000685.1:g.153035798G>A GRCh37
NC_000023.9:g.152688992G>A NCBI36
NG_013255.1:g.11148G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361971.10:c.1792G>A MANE Select ENSP00000355378.5:p.Val598Ile
ENST00000361971.9:c.1792G>A ENSP00000355378.5:p.Val598Ile
ENST00000538966.5:c.1861G>A ENSP00000442736.1:p.Val621Ile
NM_001163257.1:c.1861G>A NP_001156729.1:p.Val621Ile
NM_005393.2:c.1792G>A NP_005384.2:p.Val598Ile
NM_005393.3:c.1792G>A MANE Select NP_005384.2:p.Val598Ile
NM_001163257.2:c.1861G>A NP_001156729.1:p.Val621Ile
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