Canonical Allele Identifier: CA16621152
Gene: PCDH19 HGNC NCBI

Linked Data

ClinVar Variation Id: 422522
ClinVar RCV Id: RCV000485018
dbSNP Id: rs1064795834
MyVariant Identifiers: chrX:g.99663504T>A (hg19) chrX:g.100408506T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100408506T>A , CM000685.2:g.100408506T>A GRCh38
NC_000023.10:g.99663504T>A , CM000685.1:g.99663504T>A GRCh37
NC_000023.9:g.99550160T>A NCBI36
NG_021319.1:g.6768A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000255531.8:c.92A>T ENSP00000255531.7:p.Glu31Val
ENST00000373034.8:c.92A>T MANE Select ENSP00000362125.4:p.Glu31Val
ENST00000420881.6:c.92A>T ENSP00000400327.2:p.Glu31Val
NM_001105243.1:c.92A>T NP_001098713.1:p.Glu31Val
NM_001184880.1:c.92A>T NP_001171809.1:p.Glu31Val
NM_020766.2:c.92A>T NP_065817.2:p.Glu31Val
XM_011530997.1:c.92A>T XP_011529299.1:p.Glu31Val
XM_011530997.2:c.92A>T XP_011529299.1:p.Glu31Val
NM_001105243.2:c.92A>T NP_001098713.1:p.Glu31Val
NM_001184880.2:c.92A>T MANE Select NP_001171809.1:p.Glu31Val
NM_020766.3:c.92A>T NP_065817.2:p.Glu31Val
Search 100 bp 5'
Search 100 bp 3'