Canonical Allele Identifier: CA414000109

Gene: PCDH19

Linked Data

• MyVariant Identifiers: chrX:g.99597010G>T (hg19) ; chrX:g.100342012G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100342012G>T , CM000685.2:g.100342012G>T	GRCh38
NC_000023.10:g.99597010G>T , CM000685.1:g.99597010G>T	GRCh37
NC_000023.9:g.99483666G>T	NCBI36
NG_021319.1:g.73262C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.2598C>A	ENSP00000255531.7:p.Asp866Glu
ENST00000373034.8:c.2739C>A MANE Select	ENSP00000362125.4:p.Asp913Glu
ENST00000420881.6:c.2595C>A	ENSP00000400327.2:p.Asp865Glu
NM_001105243.1:c.2598C>A	NP_001098713.1:p.Asp866Glu
NM_001184880.1:c.2739C>A	NP_001171809.1:p.Asp913Glu
NM_020766.2:c.2595C>A	NP_065817.2:p.Asp865Glu
XM_011530997.1:c.2736C>A	XP_011529299.1:p.Asp912Glu
XM_011530997.2:c.2736C>A	XP_011529299.1:p.Asp912Glu
NM_001105243.2:c.2598C>A	NP_001098713.1:p.Asp866Glu
NM_001184880.2:c.2739C>A MANE Select	NP_001171809.1:p.Asp913Glu
NM_020766.3:c.2595C>A	NP_065817.2:p.Asp865Glu