Canonical Allele Identifier: CA200393
Gene: PCDH19 HGNC NCBI

Linked Data

ClinVar Variation Id: 193191
ClinVar RCV Id: RCV000173238 RCV001054719
dbSNP Id: rs794726897
MyVariant Identifiers: chrX:g.99662782G>A (hg19) chrX:g.100407784G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100407784G>A , CM000685.2:g.100407784G>A GRCh38
NC_000023.10:g.99662782G>A , CM000685.1:g.99662782G>A GRCh37
NC_000023.9:g.99549438G>A NCBI36
NG_021319.1:g.7490C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000255531.8:c.814C>T ENSP00000255531.7:p.Gln272Ter
ENST00000373034.8:c.814C>T MANE Select ENSP00000362125.4:p.Gln272Ter
ENST00000420881.6:c.814C>T ENSP00000400327.2:p.Gln272Ter
NM_001105243.1:c.814C>T NP_001098713.1:p.Gln272Ter
NM_001184880.1:c.814C>T NP_001171809.1:p.Gln272Ter
NM_020766.2:c.814C>T NP_065817.2:p.Gln272Ter
XM_011530997.1:c.814C>T XP_011529299.1:p.Gln272Ter
XM_011530997.2:c.814C>T XP_011529299.1:p.Gln272Ter
NM_001105243.2:c.814C>T NP_001098713.1:p.Gln272Ter
NM_001184880.2:c.814C>T MANE Select NP_001171809.1:p.Gln272Ter
NM_020766.3:c.814C>T NP_065817.2:p.Gln272Ter
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