Canonical Allele Identifier: CA2721222011
Gene: PTCHD3 HGNC NCBI

Linked Data

dbSNP Id: rs1836592509
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.27404118A>T , CM000672.2:g.27404118A>T GRCh38
NC_000010.10:g.27693047A>T , CM000672.1:g.27693047A>T GRCh37
NC_000010.9:g.27733053A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000642324.1:c.1212-761T>A ENSP00000495205.1:n.1212-761T>A
ENST00000438700.7:c.1212-761T>A ENSP00000417658.2:n.1212-761T>A
ENST00000622555.1:c.1212-761T>A ENSP00000479436.1:n.1212-761T>A
NM_001034842.3:c.1212-761T>A NP_001030014.2:n.1212-761T>A
XM_005252449.2:c.1090-761T>A XP_005252506.1:n.1090-761T>A
NM_001034842.4:c.1212-761T>A NP_001030014.2:n.1212-761T>A
NM_001034842.5:c.1212-761T>A NP_001030014.2:n.1212-761T>A
NM_001395743.1:c.1212-761T>A NP_001382672.1:n.1212-761T>A
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