Canonical Allele Identifier: CA414000137

Gene: PCDH19

Linked Data

• COSMIC: COSM4187750 ; COSM4187751
• MyVariant Identifiers: chrX:g.99597018C>A (hg19) ; chrX:g.100342020C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100342020C>A , CM000685.2:g.100342020C>A	GRCh38
NC_000023.10:g.99597018C>A , CM000685.1:g.99597018C>A	GRCh37
NC_000023.9:g.99483674C>A	NCBI36
NG_021319.1:g.73254G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.2590G>T	ENSP00000255531.7:p.Glu864Ter
ENST00000373034.8:c.2731G>T MANE Select	ENSP00000362125.4:p.Glu911Ter
ENST00000420881.6:c.2587G>T	ENSP00000400327.2:p.Glu863Ter
NM_001105243.1:c.2590G>T	NP_001098713.1:p.Glu864Ter
NM_001184880.1:c.2731G>T	NP_001171809.1:p.Glu911Ter
NM_020766.2:c.2587G>T	NP_065817.2:p.Glu863Ter
XM_011530997.1:c.2728G>T	XP_011529299.1:p.Glu910Ter
XM_011530997.2:c.2728G>T	XP_011529299.1:p.Glu910Ter
NM_001105243.2:c.2590G>T	NP_001098713.1:p.Glu864Ter
NM_001184880.2:c.2731G>T MANE Select	NP_001171809.1:p.Glu911Ter
NM_020766.3:c.2587G>T	NP_065817.2:p.Glu863Ter