Canonical Allele Identifier: CA2447955676
Gene: PCDH19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100341961A= , CM000685.2:g.100341961A= GRCh38
NC_000023.10:g.99596959A= , CM000685.1:g.99596959A= GRCh37
NC_000023.9:g.99483615A= NCBI36
NG_021319.1:g.73313T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000255531.8:c.2649T= ENSP00000255531.7:p.Ala883=
ENST00000373034.8:c.2790T= MANE Select ENSP00000362125.4:p.Ala930=
ENST00000420881.6:c.2646T= ENSP00000400327.2:p.Ala882=
NM_001105243.1:c.2649T= NP_001098713.1:p.Ala883=
NM_001184880.1:c.2790T= NP_001171809.1:p.Ala930=
NM_020766.2:c.2646T= NP_065817.2:p.Ala882=
XM_011530997.1:c.2787T= XP_011529299.1:p.Ala929=
XM_011530997.2:c.2787T= XP_011529299.1:p.Ala929=
NM_001105243.2:c.2649T= NP_001098713.1:p.Ala883=
NM_001184880.2:c.2790T= MANE Select NP_001171809.1:p.Ala930=
NM_020766.3:c.2646T= NP_065817.2:p.Ala882=