Canonical Allele Identifier: CA517696876
Gene: PCDH19 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.99596986G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100341988G>A , CM000685.2:g.100341988G>A GRCh38
NC_000023.10:g.99596986G>A , CM000685.1:g.99596986G>A GRCh37
NC_000023.9:g.99483642G>A NCBI36
NG_021319.1:g.73286C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255531.8:c.2622C>T ENSP00000255531.7:p.Val874=
ENST00000373034.8:c.2763C>T MANE Select ENSP00000362125.4:p.Val921=
ENST00000420881.6:c.2619C>T ENSP00000400327.2:p.Val873=
NM_001105243.1:c.2622C>T NP_001098713.1:p.Val874=
NM_001184880.1:c.2763C>T NP_001171809.1:p.Val921=
NM_020766.2:c.2619C>T NP_065817.2:p.Val873=
XM_011530997.1:c.2760C>T XP_011529299.1:p.Val920=
XM_011530997.2:c.2760C>T XP_011529299.1:p.Val920=
NM_001105243.2:c.2622C>T NP_001098713.1:p.Val874=
NM_001184880.2:c.2763C>T MANE Select NP_001171809.1:p.Val921=
NM_020766.3:c.2619C>T NP_065817.2:p.Val873=