Canonical Allele Identifier: CA1135800704

Gene: PCDH19

Linked Data

• dbSNP Id: rs1926256588
• gnomAD v3: X-100341826-A-G
• gnomAD v4: X-100341826-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100341826A>G , CM000685.2:g.100341826A>G	GRCh38
NC_000023.10:g.99596824A>G , CM000685.1:g.99596824A>G	GRCh37
NC_000023.9:g.99483480A>G	NCBI36
NG_021319.1:g.73448T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.2707+77T>C	ENSP00000255531.7:n.2707+77T>C
ENST00000373034.8:c.2848+77T>C MANE Select	ENSP00000362125.4:n.2848+77T>C
ENST00000420881.6:c.2704+77T>C	ENSP00000400327.2:n.2704+77T>C
NM_001105243.1:c.2707+77T>C	NP_001098713.1:n.2707+77T>C
NM_001184880.1:c.2848+77T>C	NP_001171809.1:n.2848+77T>C
NM_020766.2:c.2704+77T>C	NP_065817.2:n.2704+77T>C
XM_011530997.1:c.2845+77T>C	XP_011529299.1:n.2845+77T>C
XM_011530997.2:c.2845+77T>C	XP_011529299.1:n.2845+77T>C
NM_001105243.2:c.2707+77T>C	NP_001098713.1:n.2707+77T>C
NM_001184880.2:c.2848+77T>C MANE Select	NP_001171809.1:n.2848+77T>C
NM_020766.3:c.2704+77T>C	NP_065817.2:n.2704+77T>C