Canonical Allele Identifier: CA414002718
Gene: PCDH19 HGNC NCBI

Linked Data

ClinVar Variation Id: 804055
ClinVar RCV Id: RCV000990905
dbSNP Id: rs1602636096

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100407156T>C , CM000685.2:g.100407156T>C GRCh38
NC_000023.10:g.99662154T>C , CM000685.1:g.99662154T>C GRCh37
NC_000023.9:g.99548810T>C NCBI36
NG_021319.1:g.8118A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255531.8:c.1442A>G ENSP00000255531.7:p.Asp481Gly
ENST00000373034.8:c.1442A>G MANE Select ENSP00000362125.4:p.Asp481Gly
ENST00000420881.6:c.1442A>G ENSP00000400327.2:p.Asp481Gly
NM_001105243.1:c.1442A>G NP_001098713.1:p.Asp481Gly
NM_001184880.1:c.1442A>G NP_001171809.1:p.Asp481Gly
NM_020766.2:c.1442A>G NP_065817.2:p.Asp481Gly
XM_011530997.1:c.1442A>G XP_011529299.1:p.Asp481Gly
XM_011530997.2:c.1442A>G XP_011529299.1:p.Asp481Gly
NM_001105243.2:c.1442A>G NP_001098713.1:p.Asp481Gly
NM_001184880.2:c.1442A>G MANE Select NP_001171809.1:p.Asp481Gly
NM_020766.3:c.1442A>G NP_065817.2:p.Asp481Gly