Canonical Allele Identifier: CA221629

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 93674
• ClinVar RCV Id: RCV000188321 ; RCV000641140 ; RCV002316235 ; RCV001537807 ; RCV003952500
• dbSNP Id: rs200854927
• ExAC: X:99551487 G / C
• gnomAD v2: X-99551487-G-C
• gnomAD v3: X-100296489-G-C
• gnomAD v4: X-100296489-G-C
• MyVariant Identifiers: chrX:g.99551487G>C (hg19) ; chrX:g.100296489G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100296489G>C , CM000685.2:g.100296489G>C	GRCh38
NC_000023.10:g.99551487G>C , CM000685.1:g.99551487G>C	GRCh37
NC_000023.9:g.99438143G>C	NCBI36
NG_021319.1:g.118785C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.3094C>G	ENSP00000255531.7:p.Pro1032Ala
ENST00000373034.8:c.3235C>G MANE Select	ENSP00000362125.4:p.Pro1079Ala
ENST00000420881.6:c.3091C>G	ENSP00000400327.2:p.Pro1031Ala
NM_001105243.1:c.3094C>G	NP_001098713.1:p.Pro1032Ala
NM_001184880.1:c.3235C>G	NP_001171809.1:p.Pro1079Ala
NM_020766.2:c.3091C>G	NP_065817.2:p.Pro1031Ala
XM_011530997.1:c.3232C>G	XP_011529299.1:p.Pro1078Ala
XM_011530997.2:c.3232C>G	XP_011529299.1:p.Pro1078Ala
NM_001105243.2:c.3094C>G	NP_001098713.1:p.Pro1032Ala
NM_001184880.2:c.3235C>G MANE Select	NP_001171809.1:p.Pro1079Ala
NM_020766.3:c.3091C>G	NP_065817.2:p.Pro1031Ala