Canonical Allele Identifier: CA10468937
Gene: PCDH19 HGNC NCBI

Linked Data

ClinVar Variation Id: 1019037
ClinVar RCV Id: RCV001318419
dbSNP Id: rs775309866
gnomAD v2: X-99662674-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100407676C>T , CM000685.2:g.100407676C>T GRCh38
NC_000023.10:g.99662674C>T , CM000685.1:g.99662674C>T GRCh37
NC_000023.9:g.99549330C>T NCBI36
NG_021319.1:g.7598G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255531.8:c.922G>A ENSP00000255531.7:p.Glu308Lys
ENST00000373034.8:c.922G>A MANE Select ENSP00000362125.4:p.Glu308Lys
ENST00000420881.6:c.922G>A ENSP00000400327.2:p.Glu308Lys
NM_001105243.1:c.922G>A NP_001098713.1:p.Glu308Lys
NM_001184880.1:c.922G>A NP_001171809.1:p.Glu308Lys
NM_020766.2:c.922G>A NP_065817.2:p.Glu308Lys
XM_011530997.1:c.922G>A XP_011529299.1:p.Glu308Lys
XM_011530997.2:c.922G>A XP_011529299.1:p.Glu308Lys
NM_001105243.2:c.922G>A NP_001098713.1:p.Glu308Lys
NM_001184880.2:c.922G>A MANE Select NP_001171809.1:p.Glu308Lys
NM_020766.3:c.922G>A NP_065817.2:p.Glu308Lys