Canonical Allele Identifier: CA414000212

Gene: PCDH19

Linked Data

• MyVariant Identifiers: chrX:g.99597036T>G (hg19) ; chrX:g.100342038T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100342038T>G , CM000685.2:g.100342038T>G	GRCh38
NC_000023.10:g.99597036T>G , CM000685.1:g.99597036T>G	GRCh37
NC_000023.9:g.99483692T>G	NCBI36
NG_021319.1:g.73236A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.2572A>C	ENSP00000255531.7:p.Lys858Gln
ENST00000373034.8:c.2713A>C MANE Select	ENSP00000362125.4:p.Lys905Gln
ENST00000420881.6:c.2569A>C	ENSP00000400327.2:p.Lys857Gln
NM_001105243.1:c.2572A>C	NP_001098713.1:p.Lys858Gln
NM_001184880.1:c.2713A>C	NP_001171809.1:p.Lys905Gln
NM_020766.2:c.2569A>C	NP_065817.2:p.Lys857Gln
XM_011530997.1:c.2710A>C	XP_011529299.1:p.Lys904Gln
XM_011530997.2:c.2710A>C	XP_011529299.1:p.Lys904Gln
NM_001105243.2:c.2572A>C	NP_001098713.1:p.Lys858Gln
NM_001184880.2:c.2713A>C MANE Select	NP_001171809.1:p.Lys905Gln
NM_020766.3:c.2569A>C	NP_065817.2:p.Lys857Gln