Canonical Allele Identifier: CA414002115

Gene: PCDH19

Linked Data

• dbSNP Id: rs1301253352
• gnomAD v2: X-99661873-C-T
• gnomAD v4: X-100406875-C-T
• MyVariant Identifiers: chrX:g.99661873C>T (hg19) ; chrX:g.100406875C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100406875C>T , CM000685.2:g.100406875C>T	GRCh38
NC_000023.10:g.99661873C>T , CM000685.1:g.99661873C>T	GRCh37
NC_000023.9:g.99548529C>T	NCBI36
NG_021319.1:g.8399G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.1723G>A	ENSP00000255531.7:p.Val575Ile
ENST00000373034.8:c.1723G>A MANE Select	ENSP00000362125.4:p.Val575Ile
ENST00000420881.6:c.1723G>A	ENSP00000400327.2:p.Val575Ile
NM_001105243.1:c.1723G>A	NP_001098713.1:p.Val575Ile
NM_001184880.1:c.1723G>A	NP_001171809.1:p.Val575Ile
NM_020766.2:c.1723G>A	NP_065817.2:p.Val575Ile
XM_011530997.1:c.1723G>A	XP_011529299.1:p.Val575Ile
XM_011530997.2:c.1723G>A	XP_011529299.1:p.Val575Ile
NM_001105243.2:c.1723G>A	NP_001098713.1:p.Val575Ile
NM_001184880.2:c.1723G>A MANE Select	NP_001171809.1:p.Val575Ile
NM_020766.3:c.1723G>A	NP_065817.2:p.Val575Ile