Canonical Allele Identifier: CA10468985

Gene: PCDH19

Linked Data

• dbSNP Id: rs780410771
• ExAC: X:99663080 C / G
• gnomAD v2: X-99663080-C-G
• gnomAD v4: X-100408082-C-G
• MyVariant Identifiers: chrX:g.99663080C>G (hg19) ; chrX:g.100408082C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100408082C>G , CM000685.2:g.100408082C>G	GRCh38
NC_000023.10:g.99663080C>G , CM000685.1:g.99663080C>G	GRCh37
NC_000023.9:g.99549736C>G	NCBI36
NG_021319.1:g.7192G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.516G>C	ENSP00000255531.7:p.Glu172Asp
ENST00000373034.8:c.516G>C MANE Select	ENSP00000362125.4:p.Glu172Asp
ENST00000420881.6:c.516G>C	ENSP00000400327.2:p.Glu172Asp
NM_001105243.1:c.516G>C	NP_001098713.1:p.Glu172Asp
NM_001184880.1:c.516G>C	NP_001171809.1:p.Glu172Asp
NM_020766.2:c.516G>C	NP_065817.2:p.Glu172Asp
XM_011530997.1:c.516G>C	XP_011529299.1:p.Glu172Asp
XM_011530997.2:c.516G>C	XP_011529299.1:p.Glu172Asp
NM_001105243.2:c.516G>C	NP_001098713.1:p.Glu172Asp
NM_001184880.2:c.516G>C MANE Select	NP_001171809.1:p.Glu172Asp
NM_020766.3:c.516G>C	NP_065817.2:p.Glu172Asp