Canonical Allele Identifier: CA2822655082
Gene: PCDH19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100341870G>C , CM000685.2:g.100341870G>C GRCh38
NC_000023.10:g.99596868G>C , CM000685.1:g.99596868G>C GRCh37
NC_000023.9:g.99483524G>C NCBI36
NG_021319.1:g.73404C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255531.8:c.2707+33C>G ENSP00000255531.7:n.2707+33C>G
ENST00000373034.8:c.2848+33C>G MANE Select ENSP00000362125.4:n.2848+33C>G
ENST00000420881.6:c.2704+33C>G ENSP00000400327.2:n.2704+33C>G
NM_001105243.1:c.2707+33C>G NP_001098713.1:n.2707+33C>G
NM_001184880.1:c.2848+33C>G NP_001171809.1:n.2848+33C>G
NM_020766.2:c.2704+33C>G NP_065817.2:n.2704+33C>G
XM_011530997.1:c.2845+33C>G XP_011529299.1:n.2845+33C>G
XM_011530997.2:c.2845+33C>G XP_011529299.1:n.2845+33C>G
NM_001105243.2:c.2707+33C>G NP_001098713.1:n.2707+33C>G
NM_001184880.2:c.2848+33C>G MANE Select NP_001171809.1:n.2848+33C>G
NM_020766.3:c.2704+33C>G NP_065817.2:n.2704+33C>G