Canonical Allele Identifier: CA10550916
Gene: PLXNB3 HGNC NCBI

Linked Data

dbSNP Id: rs782548296
ExAC: X:153035648 C / T
gnomAD v2: X-153035648-C-T
gnomAD v3: X-153770193-C-T
gnomAD v4: X-153770193-C-T
COSMIC: COSM4715991 COSM4715992 COSM4715993
MyVariant Identifiers: chrX:g.153035648C>T (hg19) chrX:g.153770193C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153770193C>T , CM000685.2:g.153770193C>T GRCh38
NC_000023.10:g.153035648C>T , CM000685.1:g.153035648C>T GRCh37
NC_000023.9:g.152688842C>T NCBI36
NG_013255.1:g.10998C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361971.10:c.1731C>T MANE Select ENSP00000355378.5:p.His577=
ENST00000361971.9:c.1731C>T ENSP00000355378.5:p.His577=
ENST00000538966.5:c.1800C>T ENSP00000442736.1:p.His600=
NM_001163257.1:c.1800C>T NP_001156729.1:p.His600=
NM_005393.2:c.1731C>T NP_005384.2:p.His577=
NM_005393.3:c.1731C>T MANE Select NP_005384.2:p.His577=
NM_001163257.2:c.1800C>T NP_001156729.1:p.His600=
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