Canonical Allele Identifier: CA414002485

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 651548
• ClinVar RCV Id: RCV000806933
• dbSNP Id: rs587784295
• COSMIC: COSM6188364 ; COSM6188365
• MyVariant Identifiers: chrX:g.99662048G>T (hg19) ; chrX:g.100407050G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100407050G>T , CM000685.2:g.100407050G>T	GRCh38
NC_000023.10:g.99662048G>T , CM000685.1:g.99662048G>T	GRCh37
NC_000023.9:g.99548704G>T	NCBI36
NG_021319.1:g.8224C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.1548C>A	ENSP00000255531.7:p.Tyr516Ter
ENST00000373034.8:c.1548C>A MANE Select	ENSP00000362125.4:p.Tyr516Ter
ENST00000420881.6:c.1548C>A	ENSP00000400327.2:p.Tyr516Ter
NM_001105243.1:c.1548C>A	NP_001098713.1:p.Tyr516Ter
NM_001184880.1:c.1548C>A	NP_001171809.1:p.Tyr516Ter
NM_020766.2:c.1548C>A	NP_065817.2:p.Tyr516Ter
XM_011530997.1:c.1548C>A	XP_011529299.1:p.Tyr516Ter
XM_011530997.2:c.1548C>A	XP_011529299.1:p.Tyr516Ter
NM_001105243.2:c.1548C>A	NP_001098713.1:p.Tyr516Ter
NM_001184880.2:c.1548C>A MANE Select	NP_001171809.1:p.Tyr516Ter
NM_020766.3:c.1548C>A	NP_065817.2:p.Tyr516Ter