Canonical Allele Identifier: CA519346982
Gene: PLXNB3 HGNC NCBI

Linked Data

dbSNP Id: rs1292548854
gnomAD v3: X-153770181-G-C
gnomAD v4: X-153770181-G-C
MyVariant Identifiers: chrX:g.153035636G>C (hg19) chrX:g.153770181G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153770181G>C , CM000685.2:g.153770181G>C GRCh38
NC_000023.10:g.153035636G>C , CM000685.1:g.153035636G>C GRCh37
NC_000023.9:g.152688830G>C NCBI36
NG_013255.1:g.10986G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361971.10:c.1719G>C MANE Select ENSP00000355378.5:p.Val573=
ENST00000361971.9:c.1719G>C ENSP00000355378.5:p.Val573=
ENST00000538966.5:c.1788G>C ENSP00000442736.1:p.Val596=
NM_001163257.1:c.1788G>C NP_001156729.1:p.Val596=
NM_005393.2:c.1719G>C NP_005384.2:p.Val573=
NM_005393.3:c.1719G>C MANE Select NP_005384.2:p.Val573=
NM_001163257.2:c.1788G>C NP_001156729.1:p.Val596=
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