Canonical Allele Identifier: CA414000182

Gene: PCDH19

Linked Data

• MyVariant Identifiers: chrX:g.99597029C>A (hg19) ; chrX:g.100342031C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100342031C>A , CM000685.2:g.100342031C>A	GRCh38
NC_000023.10:g.99597029C>A , CM000685.1:g.99597029C>A	GRCh37
NC_000023.9:g.99483685C>A	NCBI36
NG_021319.1:g.73243G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.2579G>T	ENSP00000255531.7:p.Ser860Ile
ENST00000373034.8:c.2720G>T MANE Select	ENSP00000362125.4:p.Ser907Ile
ENST00000420881.6:c.2576G>T	ENSP00000400327.2:p.Ser859Ile
NM_001105243.1:c.2579G>T	NP_001098713.1:p.Ser860Ile
NM_001184880.1:c.2720G>T	NP_001171809.1:p.Ser907Ile
NM_020766.2:c.2576G>T	NP_065817.2:p.Ser859Ile
XM_011530997.1:c.2717G>T	XP_011529299.1:p.Ser906Ile
XM_011530997.2:c.2717G>T	XP_011529299.1:p.Ser906Ile
NM_001105243.2:c.2579G>T	NP_001098713.1:p.Ser860Ile
NM_001184880.2:c.2720G>T MANE Select	NP_001171809.1:p.Ser907Ile
NM_020766.3:c.2576G>T	NP_065817.2:p.Ser859Ile