Canonical Allele Identifier: CA869217065

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 849879
• ClinVar RCV Id: RCV001053929
• dbSNP Id: rs1469998949
• gnomAD v4: X-100342085-A-C
• MyVariant Identifiers: chrX:g.99597083A>C (hg19) ; chrX:g.100342085A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100342085A>C , CM000685.2:g.100342085A>C	GRCh38
NC_000023.10:g.99597083A>C , CM000685.1:g.99597083A>C	GRCh37
NC_000023.9:g.99483739A>C	NCBI36
NG_021319.1:g.73189T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.2535-10T>G	ENSP00000255531.7:n.2535-10T>G
ENST00000373034.8:c.2676-10T>G MANE Select	ENSP00000362125.4:n.2676-10T>G
ENST00000420881.6:c.2535-13T>G	ENSP00000400327.2:n.2535-13T>G
NM_001105243.1:c.2535-10T>G	NP_001098713.1:n.2535-10T>G
NM_001184880.1:c.2676-10T>G	NP_001171809.1:n.2676-10T>G
NM_020766.2:c.2535-13T>G	NP_065817.2:n.2535-13T>G
XM_011530997.1:c.2676-13T>G	XP_011529299.1:n.2676-13T>G
XM_011530997.2:c.2676-13T>G	XP_011529299.1:n.2676-13T>G
NM_001105243.2:c.2535-10T>G	NP_001098713.1:n.2535-10T>G
NM_001184880.2:c.2676-10T>G MANE Select	NP_001171809.1:n.2676-10T>G
NM_020766.3:c.2535-13T>G	NP_065817.2:n.2535-13T>G