Canonical Allele Identifier: CA16621151
Gene: PCDH19 HGNC NCBI

Linked Data

ClinVar Variation Id: 422031
ClinVar RCV Id: RCV000478041
dbSNP Id: rs1064795511
gnomAD v2: X-99663468-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100408470G>A , CM000685.2:g.100408470G>A GRCh38
NC_000023.10:g.99663468G>A , CM000685.1:g.99663468G>A GRCh37
NC_000023.9:g.99550124G>A NCBI36
NG_021319.1:g.6804C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000255531.8:c.128C>T ENSP00000255531.7:p.Ala43Val
ENST00000373034.8:c.128C>T MANE Select ENSP00000362125.4:p.Ala43Val
ENST00000420881.6:c.128C>T ENSP00000400327.2:p.Ala43Val
NM_001105243.1:c.128C>T NP_001098713.1:p.Ala43Val
NM_001184880.1:c.128C>T NP_001171809.1:p.Ala43Val
NM_020766.2:c.128C>T NP_065817.2:p.Ala43Val
XM_011530997.1:c.128C>T XP_011529299.1:p.Ala43Val
XM_011530997.2:c.128C>T XP_011529299.1:p.Ala43Val
NM_001105243.2:c.128C>T NP_001098713.1:p.Ala43Val
NM_001184880.2:c.128C>T MANE Select NP_001171809.1:p.Ala43Val
NM_020766.3:c.128C>T NP_065817.2:p.Ala43Val