Canonical Allele Identifier: CA2579659195

Gene: PCDH19

Linked Data

• gnomAD v4: X-100342086-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100342086G>T , CM000685.2:g.100342086G>T	GRCh38
NC_000023.10:g.99597084G>T , CM000685.1:g.99597084G>T	GRCh37
NC_000023.9:g.99483740G>T	NCBI36
NG_021319.1:g.73188C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.2535-11C>A	ENSP00000255531.7:n.2535-11C>A
ENST00000373034.8:c.2676-11C>A MANE Select	ENSP00000362125.4:n.2676-11C>A
ENST00000420881.6:c.2535-14C>A	ENSP00000400327.2:n.2535-14C>A
NM_001105243.1:c.2535-11C>A	NP_001098713.1:n.2535-11C>A
NM_001184880.1:c.2676-11C>A	NP_001171809.1:n.2676-11C>A
NM_020766.2:c.2535-14C>A	NP_065817.2:n.2535-14C>A
XM_011530997.1:c.2676-14C>A	XP_011529299.1:n.2676-14C>A
XM_011530997.2:c.2676-14C>A	XP_011529299.1:n.2676-14C>A
NM_001105243.2:c.2535-11C>A	NP_001098713.1:n.2535-11C>A
NM_001184880.2:c.2676-11C>A MANE Select	NP_001171809.1:n.2676-11C>A
NM_020766.3:c.2535-14C>A	NP_065817.2:n.2535-14C>A