Canonical Allele Identifier: CA316360
Gene: PCDH19 HGNC NCBI

Linked Data

ClinVar Variation Id: 206335
ClinVar RCV Id: RCV000188372
dbSNP Id: rs796052817
MyVariant Identifiers: chrX:g.99661971G>C (hg19) chrX:g.100406973G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100406973G>C , CM000685.2:g.100406973G>C GRCh38
NC_000023.10:g.99661971G>C , CM000685.1:g.99661971G>C GRCh37
NC_000023.9:g.99548627G>C NCBI36
NG_021319.1:g.8301C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000255531.8:c.1625C>G ENSP00000255531.7:p.Ser542Ter
ENST00000373034.8:c.1625C>G MANE Select ENSP00000362125.4:p.Ser542Ter
ENST00000420881.6:c.1625C>G ENSP00000400327.2:p.Ser542Ter
NM_001105243.1:c.1625C>G NP_001098713.1:p.Ser542Ter
NM_001184880.1:c.1625C>G NP_001171809.1:p.Ser542Ter
NM_020766.2:c.1625C>G NP_065817.2:p.Ser542Ter
XM_011530997.1:c.1625C>G XP_011529299.1:p.Ser542Ter
XM_011530997.2:c.1625C>G XP_011529299.1:p.Ser542Ter
NM_001105243.2:c.1625C>G NP_001098713.1:p.Ser542Ter
NM_001184880.2:c.1625C>G MANE Select NP_001171809.1:p.Ser542Ter
NM_020766.3:c.1625C>G NP_065817.2:p.Ser542Ter
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