Canonical Allele Identifier: CA414002308

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 2737274
• ClinVar RCV Id: RCV003509060
• MyVariant Identifiers: chrX:g.99661968A>G (hg19) ; chrX:g.100406970A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100406970A>G , CM000685.2:g.100406970A>G	GRCh38
NC_000023.10:g.99661968A>G , CM000685.1:g.99661968A>G	GRCh37
NC_000023.9:g.99548624A>G	NCBI36
NG_021319.1:g.8304T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.1628T>C	ENSP00000255531.7:p.Leu543Pro
ENST00000373034.8:c.1628T>C MANE Select	ENSP00000362125.4:p.Leu543Pro
ENST00000420881.6:c.1628T>C	ENSP00000400327.2:p.Leu543Pro
NM_001105243.1:c.1628T>C	NP_001098713.1:p.Leu543Pro
NM_001184880.1:c.1628T>C	NP_001171809.1:p.Leu543Pro
NM_020766.2:c.1628T>C	NP_065817.2:p.Leu543Pro
XM_011530997.1:c.1628T>C	XP_011529299.1:p.Leu543Pro
XM_011530997.2:c.1628T>C	XP_011529299.1:p.Leu543Pro
NM_001105243.2:c.1628T>C	NP_001098713.1:p.Leu543Pro
NM_001184880.2:c.1628T>C MANE Select	NP_001171809.1:p.Leu543Pro
NM_020766.3:c.1628T>C	NP_065817.2:p.Leu543Pro