Canonical Allele Identifier: CA204494681

Gene: PTCHD3

Linked Data

• dbSNP Id: rs974187922
• gnomAD v2: 10-27693263-T-G
• gnomAD v3: 10-27404334-T-G
• gnomAD v4: 10-27404334-T-G
• MyVariant Identifiers: chr10:g.27693263T>G (hg19) ; chr10:g.27404334T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.27404334T>G , CM000672.2:g.27404334T>G	GRCh38
NC_000010.10:g.27693263T>G , CM000672.1:g.27693263T>G	GRCh37
NC_000010.9:g.27733269T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642324.1:c.1212-977A>C	ENSP00000495205.1:n.1212-977A>C
ENST00000438700.7:c.1212-977A>C	ENSP00000417658.2:n.1212-977A>C
ENST00000622555.1:c.1212-977A>C	ENSP00000479436.1:n.1212-977A>C
NM_001034842.3:c.1212-977A>C	NP_001030014.2:n.1212-977A>C
XM_005252449.2:c.1090-977A>C	XP_005252506.1:n.1090-977A>C
NM_001034842.4:c.1212-977A>C	NP_001030014.2:n.1212-977A>C
NM_001034842.5:c.1212-977A>C	NP_001030014.2:n.1212-977A>C
NM_001395743.1:c.1212-977A>C	NP_001382672.1:n.1212-977A>C