Canonical Allele Identifier: CA10468712

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 510619
• ClinVar RCV Id: RCV000616702
• dbSNP Id: rs752763816
• ExAC: X:99596982 G / T
• gnomAD v2: X-99596982-G-T
• gnomAD v4: X-100341984-G-T
• MyVariant Identifiers: chrX:g.99596982G>T (hg19) ; chrX:g.100341984G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100341984G>T , CM000685.2:g.100341984G>T	GRCh38
NC_000023.10:g.99596982G>T , CM000685.1:g.99596982G>T	GRCh37
NC_000023.9:g.99483638G>T	NCBI36
NG_021319.1:g.73290C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.2626C>A	ENSP00000255531.7:p.Arg876=
ENST00000373034.8:c.2767C>A MANE Select	ENSP00000362125.4:p.Arg923=
ENST00000420881.6:c.2623C>A	ENSP00000400327.2:p.Arg875=
NM_001105243.1:c.2626C>A	NP_001098713.1:p.Arg876=
NM_001184880.1:c.2767C>A	NP_001171809.1:p.Arg923=
NM_020766.2:c.2623C>A	NP_065817.2:p.Arg875=
XM_011530997.1:c.2764C>A	XP_011529299.1:p.Arg922=
XM_011530997.2:c.2764C>A	XP_011529299.1:p.Arg922=
NM_001105243.2:c.2626C>A	NP_001098713.1:p.Arg876=
NM_001184880.2:c.2767C>A MANE Select	NP_001171809.1:p.Arg923=
NM_020766.3:c.2623C>A	NP_065817.2:p.Arg875=