Canonical Allele Identifier: CA413999987

Gene: PCDH19

Linked Data

• gnomAD v4: X-100341980-C-G
• MyVariant Identifiers: chrX:g.99596978C>G (hg19) ; chrX:g.100341980C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100341980C>G , CM000685.2:g.100341980C>G	GRCh38
NC_000023.10:g.99596978C>G , CM000685.1:g.99596978C>G	GRCh37
NC_000023.9:g.99483634C>G	NCBI36
NG_021319.1:g.73294G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.2630G>C	ENSP00000255531.7:p.Ser877Thr
ENST00000373034.8:c.2771G>C MANE Select	ENSP00000362125.4:p.Ser924Thr
ENST00000420881.6:c.2627G>C	ENSP00000400327.2:p.Ser876Thr
NM_001105243.1:c.2630G>C	NP_001098713.1:p.Ser877Thr
NM_001184880.1:c.2771G>C	NP_001171809.1:p.Ser924Thr
NM_020766.2:c.2627G>C	NP_065817.2:p.Ser876Thr
XM_011530997.1:c.2768G>C	XP_011529299.1:p.Ser923Thr
XM_011530997.2:c.2768G>C	XP_011529299.1:p.Ser923Thr
NM_001105243.2:c.2630G>C	NP_001098713.1:p.Ser877Thr
NM_001184880.2:c.2771G>C MANE Select	NP_001171809.1:p.Ser924Thr
NM_020766.3:c.2627G>C	NP_065817.2:p.Ser876Thr