Canonical Allele Identifier: CA414000045

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 947224
• ClinVar RCV Id: RCV001218248
• dbSNP Id: rs1926264482
• MyVariant Identifiers: chrX:g.99596995C>A (hg19) ; chrX:g.100341997C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100341997C>A , CM000685.2:g.100341997C>A	GRCh38
NC_000023.10:g.99596995C>A , CM000685.1:g.99596995C>A	GRCh37
NC_000023.9:g.99483651C>A	NCBI36
NG_021319.1:g.73277G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.2613G>T	ENSP00000255531.7:p.Glu871Asp
ENST00000373034.8:c.2754G>T MANE Select	ENSP00000362125.4:p.Glu918Asp
ENST00000420881.6:c.2610G>T	ENSP00000400327.2:p.Glu870Asp
NM_001105243.1:c.2613G>T	NP_001098713.1:p.Glu871Asp
NM_001184880.1:c.2754G>T	NP_001171809.1:p.Glu918Asp
NM_020766.2:c.2610G>T	NP_065817.2:p.Glu870Asp
XM_011530997.1:c.2751G>T	XP_011529299.1:p.Glu917Asp
XM_011530997.2:c.2751G>T	XP_011529299.1:p.Glu917Asp
NM_001105243.2:c.2613G>T	NP_001098713.1:p.Glu871Asp
NM_001184880.2:c.2754G>T MANE Select	NP_001171809.1:p.Glu918Asp
NM_020766.3:c.2610G>T	NP_065817.2:p.Glu870Asp