Canonical Allele Identifier: CA16608688
Gene: PCDH19 HGNC NCBI

Linked Data

ClinVar Variation Id: 379858
ClinVar RCV Id: RCV000425887
dbSNP Id: rs1057520761
MyVariant Identifiers: chrX:g.99662771G>T (hg19) chrX:g.100407773G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100407773G>T , CM000685.2:g.100407773G>T GRCh38
NC_000023.10:g.99662771G>T , CM000685.1:g.99662771G>T GRCh37
NC_000023.9:g.99549427G>T NCBI36
NG_021319.1:g.7501C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000255531.8:c.825C>A ENSP00000255531.7:p.Tyr275Ter
ENST00000373034.8:c.825C>A MANE Select ENSP00000362125.4:p.Tyr275Ter
ENST00000420881.6:c.825C>A ENSP00000400327.2:p.Tyr275Ter
NM_001105243.1:c.825C>A NP_001098713.1:p.Tyr275Ter
NM_001184880.1:c.825C>A NP_001171809.1:p.Tyr275Ter
NM_020766.2:c.825C>A NP_065817.2:p.Tyr275Ter
XM_011530997.1:c.825C>A XP_011529299.1:p.Tyr275Ter
XM_011530997.2:c.825C>A XP_011529299.1:p.Tyr275Ter
NM_001105243.2:c.825C>A NP_001098713.1:p.Tyr275Ter
NM_001184880.2:c.825C>A MANE Select NP_001171809.1:p.Tyr275Ter
NM_020766.3:c.825C>A NP_065817.2:p.Tyr275Ter
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