Canonical Allele Identifier: CA10468909

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 1005673
• ClinVar RCV Id: RCV001302593
• dbSNP Id: rs746891808
• ExAC: X:99662386 T / C
• gnomAD v2: X-99662386-T-C
• gnomAD v3: X-100407388-T-C
• gnomAD v4: X-100407388-T-C
• MyVariant Identifiers: chrX:g.99662386T>C (hg19) ; chrX:g.100407388T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100407388T>C , CM000685.2:g.100407388T>C	GRCh38
NC_000023.10:g.99662386T>C , CM000685.1:g.99662386T>C	GRCh37
NC_000023.9:g.99549042T>C	NCBI36
NG_021319.1:g.7886A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.1210A>G	ENSP00000255531.7:p.Thr404Ala
ENST00000373034.8:c.1210A>G MANE Select	ENSP00000362125.4:p.Thr404Ala
ENST00000420881.6:c.1210A>G	ENSP00000400327.2:p.Thr404Ala
NM_001105243.1:c.1210A>G	NP_001098713.1:p.Thr404Ala
NM_001184880.1:c.1210A>G	NP_001171809.1:p.Thr404Ala
NM_020766.2:c.1210A>G	NP_065817.2:p.Thr404Ala
XM_011530997.1:c.1210A>G	XP_011529299.1:p.Thr404Ala
XM_011530997.2:c.1210A>G	XP_011529299.1:p.Thr404Ala
NM_001105243.2:c.1210A>G	NP_001098713.1:p.Thr404Ala
NM_001184880.2:c.1210A>G MANE Select	NP_001171809.1:p.Thr404Ala
NM_020766.3:c.1210A>G	NP_065817.2:p.Thr404Ala