Canonical Allele Identifier: CA2447958543
Gene: PCDH19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100350665G= , CM000685.2:g.100350665G= GRCh38
NC_000023.10:g.99605663G= , CM000685.1:g.99605663G= GRCh37
NC_000023.9:g.99492319G= NCBI36
NG_021319.1:g.64609C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636150.1:c.157C= ENSP00000490463.1:p.Arg53=
ENST00000255531.8:c.2515C= ENSP00000255531.7:p.Arg839=
ENST00000373034.8:c.2656C= MANE Select ENSP00000362125.4:p.Arg886=
ENST00000420881.6:c.2515C= ENSP00000400327.2:p.Arg839=
NM_001105243.1:c.2515C= NP_001098713.1:p.Arg839=
NM_001184880.1:c.2656C= NP_001171809.1:p.Arg886=
NM_020766.2:c.2515C= NP_065817.2:p.Arg839=
XM_011530997.1:c.2656C= XP_011529299.1:p.Arg886=
XM_011530997.2:c.2656C= XP_011529299.1:p.Arg886=
NM_001105243.2:c.2515C= NP_001098713.1:p.Arg839=
NM_001184880.2:c.2656C= MANE Select NP_001171809.1:p.Arg886=
NM_020766.3:c.2515C= NP_065817.2:p.Arg839=