Canonical Allele Identifier: CA2447955717

Gene: PCDH19

Linked Data

• dbSNP Id: rs1926268984
• gnomAD v4: X-100342096-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100342096T>A , CM000685.2:g.100342096T>A	GRCh38
NC_000023.10:g.99597094T>A , CM000685.1:g.99597094T>A	GRCh37
NC_000023.9:g.99483750T>A	NCBI36
NG_021319.1:g.73178A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.2535-21A>T	ENSP00000255531.7:n.2535-21A>T
ENST00000373034.8:c.2676-21A>T MANE Select	ENSP00000362125.4:n.2676-21A>T
ENST00000420881.6:c.2535-24A>T	ENSP00000400327.2:n.2535-24A>T
NM_001105243.1:c.2535-21A>T	NP_001098713.1:n.2535-21A>T
NM_001184880.1:c.2676-21A>T	NP_001171809.1:n.2676-21A>T
NM_020766.2:c.2535-24A>T	NP_065817.2:n.2535-24A>T
XM_011530997.1:c.2676-24A>T	XP_011529299.1:n.2676-24A>T
XM_011530997.2:c.2676-24A>T	XP_011529299.1:n.2676-24A>T
NM_001105243.2:c.2535-21A>T	NP_001098713.1:n.2535-21A>T
NM_001184880.2:c.2676-21A>T MANE Select	NP_001171809.1:n.2676-21A>T
NM_020766.3:c.2535-24A>T	NP_065817.2:n.2535-24A>T