Canonical Allele Identifier: CA517697114
Gene: PCDH19 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.99597037C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100342039C>G , CM000685.2:g.100342039C>G GRCh38
NC_000023.10:g.99597037C>G , CM000685.1:g.99597037C>G GRCh37
NC_000023.9:g.99483693C>G NCBI36
NG_021319.1:g.73235G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255531.8:c.2571G>C ENSP00000255531.7:p.Leu857=
ENST00000373034.8:c.2712G>C MANE Select ENSP00000362125.4:p.Leu904=
ENST00000420881.6:c.2568G>C ENSP00000400327.2:p.Leu856=
NM_001105243.1:c.2571G>C NP_001098713.1:p.Leu857=
NM_001184880.1:c.2712G>C NP_001171809.1:p.Leu904=
NM_020766.2:c.2568G>C NP_065817.2:p.Leu856=
XM_011530997.1:c.2709G>C XP_011529299.1:p.Leu903=
XM_011530997.2:c.2709G>C XP_011529299.1:p.Leu903=
NM_001105243.2:c.2571G>C NP_001098713.1:p.Leu857=
NM_001184880.2:c.2712G>C MANE Select NP_001171809.1:p.Leu904=
NM_020766.3:c.2568G>C NP_065817.2:p.Leu856=