Canonical Allele Identifier: CA413999763

Gene: PCDH19

Linked Data

• MyVariant Identifiers: chrX:g.99596918G>A (hg19) ; chrX:g.100341920G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100341920G>A , CM000685.2:g.100341920G>A	GRCh38
NC_000023.10:g.99596918G>A , CM000685.1:g.99596918G>A	GRCh37
NC_000023.9:g.99483574G>A	NCBI36
NG_021319.1:g.73354C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.2690C>T	ENSP00000255531.7:p.Ser897Phe
ENST00000373034.8:c.2831C>T MANE Select	ENSP00000362125.4:p.Ser944Phe
ENST00000420881.6:c.2687C>T	ENSP00000400327.2:p.Ser896Phe
NM_001105243.1:c.2690C>T	NP_001098713.1:p.Ser897Phe
NM_001184880.1:c.2831C>T	NP_001171809.1:p.Ser944Phe
NM_020766.2:c.2687C>T	NP_065817.2:p.Ser896Phe
XM_011530997.1:c.2828C>T	XP_011529299.1:p.Ser943Phe
XM_011530997.2:c.2828C>T	XP_011529299.1:p.Ser943Phe
NM_001105243.2:c.2690C>T	NP_001098713.1:p.Ser897Phe
NM_001184880.2:c.2831C>T MANE Select	NP_001171809.1:p.Ser944Phe
NM_020766.3:c.2687C>T	NP_065817.2:p.Ser896Phe