Canonical Allele Identifier: CA926189887

Gene: PTCHD3

Linked Data

• dbSNP Id: rs1836590591
• gnomAD v3: 10-27403992-G-A
• gnomAD v4: 10-27403992-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.27403992G>A , CM000672.2:g.27403992G>A	GRCh38
NC_000010.10:g.27692921G>A , CM000672.1:g.27692921G>A	GRCh37
NC_000010.9:g.27732927G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642324.1:c.1212-635C>T	ENSP00000495205.1:n.1212-635C>T
ENST00000438700.7:c.1212-635C>T	ENSP00000417658.2:n.1212-635C>T
ENST00000622555.1:c.1212-635C>T	ENSP00000479436.1:n.1212-635C>T
NM_001034842.3:c.1212-635C>T	NP_001030014.2:n.1212-635C>T
XM_005252449.2:c.1090-635C>T	XP_005252506.1:n.1090-635C>T
NM_001034842.4:c.1212-635C>T	NP_001030014.2:n.1212-635C>T
NM_001034842.5:c.1212-635C>T	NP_001030014.2:n.1212-635C>T
NM_001395743.1:c.1212-635C>T	NP_001382672.1:n.1212-635C>T