Canonical Allele Identifier: CA2694250702

Gene: PCDH19

Linked Data

• gnomAD v4: X-100341873-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100341873T>G , CM000685.2:g.100341873T>G	GRCh38
NC_000023.10:g.99596871T>G , CM000685.1:g.99596871T>G	GRCh37
NC_000023.9:g.99483527T>G	NCBI36
NG_021319.1:g.73401A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.2707+30A>C	ENSP00000255531.7:n.2707+30A>C
ENST00000373034.8:c.2848+30A>C MANE Select	ENSP00000362125.4:n.2848+30A>C
ENST00000420881.6:c.2704+30A>C	ENSP00000400327.2:n.2704+30A>C
NM_001105243.1:c.2707+30A>C	NP_001098713.1:n.2707+30A>C
NM_001184880.1:c.2848+30A>C	NP_001171809.1:n.2848+30A>C
NM_020766.2:c.2704+30A>C	NP_065817.2:n.2704+30A>C
XM_011530997.1:c.2845+30A>C	XP_011529299.1:n.2845+30A>C
XM_011530997.2:c.2845+30A>C	XP_011529299.1:n.2845+30A>C
NM_001105243.2:c.2707+30A>C	NP_001098713.1:n.2707+30A>C
NM_001184880.2:c.2848+30A>C MANE Select	NP_001171809.1:n.2848+30A>C
NM_020766.3:c.2704+30A>C	NP_065817.2:n.2704+30A>C