Canonical Allele Identifier: CA414000273

Gene: PCDH19

Linked Data

• MyVariant Identifiers: chrX:g.99597052T>G (hg19) ; chrX:g.100342054T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100342054T>G , CM000685.2:g.100342054T>G	GRCh38
NC_000023.10:g.99597052T>G , CM000685.1:g.99597052T>G	GRCh37
NC_000023.9:g.99483708T>G	NCBI36
NG_021319.1:g.73220A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.2556A>C	ENSP00000255531.7:p.Leu852Phe
ENST00000373034.8:c.2697A>C MANE Select	ENSP00000362125.4:p.Leu899Phe
ENST00000420881.6:c.2553A>C	ENSP00000400327.2:p.Leu851Phe
NM_001105243.1:c.2556A>C	NP_001098713.1:p.Leu852Phe
NM_001184880.1:c.2697A>C	NP_001171809.1:p.Leu899Phe
NM_020766.2:c.2553A>C	NP_065817.2:p.Leu851Phe
XM_011530997.1:c.2694A>C	XP_011529299.1:p.Leu898Phe
XM_011530997.2:c.2694A>C	XP_011529299.1:p.Leu898Phe
NM_001105243.2:c.2556A>C	NP_001098713.1:p.Leu852Phe
NM_001184880.2:c.2697A>C MANE Select	NP_001171809.1:p.Leu899Phe
NM_020766.3:c.2553A>C	NP_065817.2:p.Leu851Phe