Canonical Allele Identifier: CA414005199

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 2076457
• ClinVar RCV Id: RCV002972326
• dbSNP Id: rs1364286555
• gnomAD v4: X-100407744-G-A
• MyVariant Identifiers: chrX:g.99662742G>A (hg19) ; chrX:g.100407744G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100407744G>A , CM000685.2:g.100407744G>A	GRCh38
NC_000023.10:g.99662742G>A , CM000685.1:g.99662742G>A	GRCh37
NC_000023.9:g.99549398G>A	NCBI36
NG_021319.1:g.7530C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.854C>T	ENSP00000255531.7:p.Thr285Met
ENST00000373034.8:c.854C>T MANE Select	ENSP00000362125.4:p.Thr285Met
ENST00000420881.6:c.854C>T	ENSP00000400327.2:p.Thr285Met
NM_001105243.1:c.854C>T	NP_001098713.1:p.Thr285Met
NM_001184880.1:c.854C>T	NP_001171809.1:p.Thr285Met
NM_020766.2:c.854C>T	NP_065817.2:p.Thr285Met
XM_011530997.1:c.854C>T	XP_011529299.1:p.Thr285Met
XM_011530997.2:c.854C>T	XP_011529299.1:p.Thr285Met
NM_001105243.2:c.854C>T	NP_001098713.1:p.Thr285Met
NM_001184880.2:c.854C>T MANE Select	NP_001171809.1:p.Thr285Met
NM_020766.3:c.854C>T	NP_065817.2:p.Thr285Met