Canonical Allele Identifier: CA414002166

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 971984
• ClinVar RCV Id: RCV001247902
• dbSNP Id: rs1928370474
• COSMIC: COSM1331647 ; COSM1331648
• MyVariant Identifiers: chrX:g.99661900G>A (hg19) ; chrX:g.100406902G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100406902G>A , CM000685.2:g.100406902G>A	GRCh38
NC_000023.10:g.99661900G>A , CM000685.1:g.99661900G>A	GRCh37
NC_000023.9:g.99548556G>A	NCBI36
NG_021319.1:g.8372C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.1696C>T	ENSP00000255531.7:p.Pro566Ser
ENST00000373034.8:c.1696C>T MANE Select	ENSP00000362125.4:p.Pro566Ser
ENST00000420881.6:c.1696C>T	ENSP00000400327.2:p.Pro566Ser
NM_001105243.1:c.1696C>T	NP_001098713.1:p.Pro566Ser
NM_001184880.1:c.1696C>T	NP_001171809.1:p.Pro566Ser
NM_020766.2:c.1696C>T	NP_065817.2:p.Pro566Ser
XM_011530997.1:c.1696C>T	XP_011529299.1:p.Pro566Ser
XM_011530997.2:c.1696C>T	XP_011529299.1:p.Pro566Ser
NM_001105243.2:c.1696C>T	NP_001098713.1:p.Pro566Ser
NM_001184880.2:c.1696C>T MANE Select	NP_001171809.1:p.Pro566Ser
NM_020766.3:c.1696C>T	NP_065817.2:p.Pro566Ser