Canonical Allele Identifier: CA413999690
Gene: PCDH19 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100341901A>T , CM000685.2:g.100341901A>T GRCh38
NC_000023.10:g.99596899A>T , CM000685.1:g.99596899A>T GRCh37
NC_000023.9:g.99483555A>T NCBI36
NG_021319.1:g.73373T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255531.8:c.2707+2T>A ENSP00000255531.7:n.2707+2T>A
ENST00000373034.8:c.2848+2T>A MANE Select ENSP00000362125.4:n.2848+2T>A
ENST00000420881.6:c.2704+2T>A ENSP00000400327.2:n.2704+2T>A
NM_001105243.1:c.2707+2T>A NP_001098713.1:n.2707+2T>A
NM_001184880.1:c.2848+2T>A NP_001171809.1:n.2848+2T>A
NM_020766.2:c.2704+2T>A NP_065817.2:n.2704+2T>A
XM_011530997.1:c.2845+2T>A XP_011529299.1:n.2845+2T>A
XM_011530997.2:c.2845+2T>A XP_011529299.1:n.2845+2T>A
NM_001105243.2:c.2707+2T>A NP_001098713.1:n.2707+2T>A
NM_001184880.2:c.2848+2T>A MANE Select NP_001171809.1:n.2848+2T>A
NM_020766.3:c.2704+2T>A NP_065817.2:n.2704+2T>A