Canonical Allele Identifier: CA414000348

Gene: PCDH19

Linked Data

• COSMIC: COSM6188366 ; COSM6188367
• MyVariant Identifiers: chrX:g.99597071C>A (hg19) ; chrX:g.100342073C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100342073C>A , CM000685.2:g.100342073C>A	GRCh38
NC_000023.10:g.99597071C>A , CM000685.1:g.99597071C>A	GRCh37
NC_000023.9:g.99483727C>A	NCBI36
NG_021319.1:g.73201G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.2537G>T	ENSP00000255531.7:p.Ser846Ile
ENST00000373034.8:c.2678G>T MANE Select	ENSP00000362125.4:p.Ser893Ile
ENST00000420881.6:c.2535-1G>T	ENSP00000400327.2:n.2535-1G>T
NM_001105243.1:c.2537G>T	NP_001098713.1:p.Ser846Ile
NM_001184880.1:c.2678G>T	NP_001171809.1:p.Ser893Ile
NM_020766.2:c.2535-1G>T	NP_065817.2:n.2535-1G>T
XM_011530997.1:c.2676-1G>T	XP_011529299.1:n.2676-1G>T
XM_011530997.2:c.2676-1G>T	XP_011529299.1:n.2676-1G>T
NM_001105243.2:c.2537G>T	NP_001098713.1:p.Ser846Ile
NM_001184880.2:c.2678G>T MANE Select	NP_001171809.1:p.Ser893Ile
NM_020766.3:c.2535-1G>T	NP_065817.2:n.2535-1G>T