Canonical Allele Identifier: CA414009412

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 2141004
• ClinVar RCV Id: RCV003073840
• dbSNP Id: rs1928452736
• gnomAD v4: X-100408069-C-G
• MyVariant Identifiers: chrX:g.99663067C>G (hg19) ; chrX:g.100408069C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100408069C>G , CM000685.2:g.100408069C>G	GRCh38
NC_000023.10:g.99663067C>G , CM000685.1:g.99663067C>G	GRCh37
NC_000023.9:g.99549723C>G	NCBI36
NG_021319.1:g.7205G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.529G>C	ENSP00000255531.7:p.Glu177Gln
ENST00000373034.8:c.529G>C MANE Select	ENSP00000362125.4:p.Glu177Gln
ENST00000420881.6:c.529G>C	ENSP00000400327.2:p.Glu177Gln
NM_001105243.1:c.529G>C	NP_001098713.1:p.Glu177Gln
NM_001184880.1:c.529G>C	NP_001171809.1:p.Glu177Gln
NM_020766.2:c.529G>C	NP_065817.2:p.Glu177Gln
XM_011530997.1:c.529G>C	XP_011529299.1:p.Glu177Gln
XM_011530997.2:c.529G>C	XP_011529299.1:p.Glu177Gln
NM_001105243.2:c.529G>C	NP_001098713.1:p.Glu177Gln
NM_001184880.2:c.529G>C MANE Select	NP_001171809.1:p.Glu177Gln
NM_020766.3:c.529G>C	NP_065817.2:p.Glu177Gln