Canonical Allele Identifier: CA414005228

Gene: PCDH19

Linked Data

• gnomAD v4: X-100407748-G-A
• COSMIC: COSM1491340
• MyVariant Identifiers: chrX:g.99662746G>A (hg19) ; chrX:g.100407748G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100407748G>A , CM000685.2:g.100407748G>A	GRCh38
NC_000023.10:g.99662746G>A , CM000685.1:g.99662746G>A	GRCh37
NC_000023.9:g.99549402G>A	NCBI36
NG_021319.1:g.7526C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.850C>T	ENSP00000255531.7:p.Arg284Cys
ENST00000373034.8:c.850C>T MANE Select	ENSP00000362125.4:p.Arg284Cys
ENST00000420881.6:c.850C>T	ENSP00000400327.2:p.Arg284Cys
NM_001105243.1:c.850C>T	NP_001098713.1:p.Arg284Cys
NM_001184880.1:c.850C>T	NP_001171809.1:p.Arg284Cys
NM_020766.2:c.850C>T	NP_065817.2:p.Arg284Cys
XM_011530997.1:c.850C>T	XP_011529299.1:p.Arg284Cys
XM_011530997.2:c.850C>T	XP_011529299.1:p.Arg284Cys
NM_001105243.2:c.850C>T	NP_001098713.1:p.Arg284Cys
NM_001184880.2:c.850C>T MANE Select	NP_001171809.1:p.Arg284Cys
NM_020766.3:c.850C>T	NP_065817.2:p.Arg284Cys