Canonical Allele Identifier: CA643538067

Gene: PCDH19

Linked Data

• dbSNP Id: rs1472109527
• gnomAD v2: X-99596834-G-C
• gnomAD v3: X-100341836-G-C
• gnomAD v4: X-100341836-G-C
• MyVariant Identifiers: chrX:g.99596834G>C (hg19) ; chrX:g.100341836G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100341836G>C , CM000685.2:g.100341836G>C	GRCh38
NC_000023.10:g.99596834G>C , CM000685.1:g.99596834G>C	GRCh37
NC_000023.9:g.99483490G>C	NCBI36
NG_021319.1:g.73438C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.2707+67C>G	ENSP00000255531.7:n.2707+67C>G
ENST00000373034.8:c.2848+67C>G MANE Select	ENSP00000362125.4:n.2848+67C>G
ENST00000420881.6:c.2704+67C>G	ENSP00000400327.2:n.2704+67C>G
NM_001105243.1:c.2707+67C>G	NP_001098713.1:n.2707+67C>G
NM_001184880.1:c.2848+67C>G	NP_001171809.1:n.2848+67C>G
NM_020766.2:c.2704+67C>G	NP_065817.2:n.2704+67C>G
XM_011530997.1:c.2845+67C>G	XP_011529299.1:n.2845+67C>G
XM_011530997.2:c.2845+67C>G	XP_011529299.1:n.2845+67C>G
NM_001105243.2:c.2707+67C>G	NP_001098713.1:n.2707+67C>G
NM_001184880.2:c.2848+67C>G MANE Select	NP_001171809.1:n.2848+67C>G
NM_020766.3:c.2704+67C>G	NP_065817.2:n.2704+67C>G