Canonical Allele Identifier: CA414000321

Gene: PCDH19

Linked Data

• COSMIC: COSM3564161 ; COSM3564162
• MyVariant Identifiers: chrX:g.99597063A>G (hg19) ; chrX:g.100342065A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100342065A>G , CM000685.2:g.100342065A>G	GRCh38
NC_000023.10:g.99597063A>G , CM000685.1:g.99597063A>G	GRCh37
NC_000023.9:g.99483719A>G	NCBI36
NG_021319.1:g.73209T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.2545T>C	ENSP00000255531.7:p.Phe849Leu
ENST00000373034.8:c.2686T>C MANE Select	ENSP00000362125.4:p.Phe896Leu
ENST00000420881.6:c.2542T>C	ENSP00000400327.2:p.Phe848Leu
NM_001105243.1:c.2545T>C	NP_001098713.1:p.Phe849Leu
NM_001184880.1:c.2686T>C	NP_001171809.1:p.Phe896Leu
NM_020766.2:c.2542T>C	NP_065817.2:p.Phe848Leu
XM_011530997.1:c.2683T>C	XP_011529299.1:p.Phe895Leu
XM_011530997.2:c.2683T>C	XP_011529299.1:p.Phe895Leu
NM_001105243.2:c.2545T>C	NP_001098713.1:p.Phe849Leu
NM_001184880.2:c.2686T>C MANE Select	NP_001171809.1:p.Phe896Leu
NM_020766.3:c.2542T>C	NP_065817.2:p.Phe848Leu