Canonical Allele Identifier: CA414002510

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 955905
• ClinVar RCV Id: RCV001228624
• dbSNP Id: rs1928380918
• COSMIC: COSM3974016 ; COSM3974017
• MyVariant Identifiers: chrX:g.99662058C>A (hg19) ; chrX:g.100407060C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100407060C>A , CM000685.2:g.100407060C>A	GRCh38
NC_000023.10:g.99662058C>A , CM000685.1:g.99662058C>A	GRCh37
NC_000023.9:g.99548714C>A	NCBI36
NG_021319.1:g.8214G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.1538G>T	ENSP00000255531.7:p.Gly513Val
ENST00000373034.8:c.1538G>T MANE Select	ENSP00000362125.4:p.Gly513Val
ENST00000420881.6:c.1538G>T	ENSP00000400327.2:p.Gly513Val
NM_001105243.1:c.1538G>T	NP_001098713.1:p.Gly513Val
NM_001184880.1:c.1538G>T	NP_001171809.1:p.Gly513Val
NM_020766.2:c.1538G>T	NP_065817.2:p.Gly513Val
XM_011530997.1:c.1538G>T	XP_011529299.1:p.Gly513Val
XM_011530997.2:c.1538G>T	XP_011529299.1:p.Gly513Val
NM_001105243.2:c.1538G>T	NP_001098713.1:p.Gly513Val
NM_001184880.2:c.1538G>T MANE Select	NP_001171809.1:p.Gly513Val
NM_020766.3:c.1538G>T	NP_065817.2:p.Gly513Val