Canonical Allele Identifier: CA414000071
Gene: PCDH19 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100342003G>T , CM000685.2:g.100342003G>T GRCh38
NC_000023.10:g.99597001G>T , CM000685.1:g.99597001G>T GRCh37
NC_000023.9:g.99483657G>T NCBI36
NG_021319.1:g.73271C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255531.8:c.2607C>A ENSP00000255531.7:p.Asp869Glu
ENST00000373034.8:c.2748C>A MANE Select ENSP00000362125.4:p.Asp916Glu
ENST00000420881.6:c.2604C>A ENSP00000400327.2:p.Asp868Glu
NM_001105243.1:c.2607C>A NP_001098713.1:p.Asp869Glu
NM_001184880.1:c.2748C>A NP_001171809.1:p.Asp916Glu
NM_020766.2:c.2604C>A NP_065817.2:p.Asp868Glu
XM_011530997.1:c.2745C>A XP_011529299.1:p.Asp915Glu
XM_011530997.2:c.2745C>A XP_011529299.1:p.Asp915Glu
NM_001105243.2:c.2607C>A NP_001098713.1:p.Asp869Glu
NM_001184880.2:c.2748C>A MANE Select NP_001171809.1:p.Asp916Glu
NM_020766.3:c.2604C>A NP_065817.2:p.Asp868Glu