Canonical Allele Identifier: CA316301
Gene: PCDH19 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100408125G>C , CM000685.2:g.100408125G>C GRCh38
NC_000023.10:g.99663123G>C , CM000685.1:g.99663123G>C GRCh37
NC_000023.9:g.99549779G>C NCBI36
NG_021319.1:g.7149C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255531.8:c.473C>G ENSP00000255531.7:p.Ser158Ter
ENST00000373034.8:c.473C>G MANE Select ENSP00000362125.4:p.Ser158Ter
ENST00000420881.6:c.473C>G ENSP00000400327.2:p.Ser158Ter
NM_001105243.1:c.473C>G NP_001098713.1:p.Ser158Ter
NM_001184880.1:c.473C>G NP_001171809.1:p.Ser158Ter
NM_020766.2:c.473C>G NP_065817.2:p.Ser158Ter
XM_011530997.1:c.473C>G XP_011529299.1:p.Ser158Ter
XM_011530997.2:c.473C>G XP_011529299.1:p.Ser158Ter
NM_001105243.2:c.473C>G NP_001098713.1:p.Ser158Ter
NM_001184880.2:c.473C>G MANE Select NP_001171809.1:p.Ser158Ter
NM_020766.3:c.473C>G NP_065817.2:p.Ser158Ter
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