Canonical Allele Identifier: CA378987308

Gene: CDHR5

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.617968A>T , CM000673.2:g.617968A>T	GRCh38
NC_000011.9:g.617968A>T , CM000673.1:g.617968A>T	GRCh37
NC_000011.8:g.607968A>T	NCBI36
NG_029106.1:g.3032T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358353.8:c.2086T>A	ENSP00000351118.4:p.Cys696Ser
ENST00000397542.7:c.2104T>A MANE Select	ENSP00000380676.2:p.Cys702Ser
ENST00000674088.1:c.2104T>A	ENSP00000501074.1:p.Cys702Ser
ENST00000349570.11:c.1522T>A	ENSP00000345726.7:p.Cys508Ser
ENST00000358353.7:c.2104T>A	ENSP00000351118.3:p.Cys702Ser
ENST00000397542.6:c.2104T>A	ENSP00000380676.2:p.Cys702Ser
ENST00000531177.5:c.*1936T>A	ENSP00000437255.1:n.*1936T>A
NM_001171968.1:c.2086T>A	NP_001165439.1:p.Ser696Thr
NM_021924.4:c.2104T>A	NP_068743.2:p.Ser702Thr
NM_031264.3:c.1522T>A	NP_112554.2:p.Ser508Thr
XM_006718253.2:c.1864T>A	XP_006718316.1:p.Cys622Ser
XM_011520188.1:c.1771T>A	XP_011518490.1:p.Cys591Ser
XM_011520189.1:c.1678T>A	XP_011518491.1:p.Cys560Ser
XM_011520190.1:c.1437T>A	XP_011518492.1:p.Ala479=
XM_011520191.1:c.1379-198T>A	XP_011518493.1:n.1379-198T>A
XM_006718253.3:c.1864T>A	XP_006718316.1:p.Cys622Ser
XM_011520188.2:c.1771T>A	XP_011518490.1:p.Cys591Ser
XM_011520189.2:c.1678T>A	XP_011518491.1:p.Cys560Ser
XM_011520190.2:c.1437T>A	XP_011518492.1:p.Ala479=
XM_011520191.2:c.1379-198T>A	XP_011518493.1:n.1379-198T>A
NM_001171968.2:c.2086T>A	NP_001165439.2:p.Cys696Ser
NM_021924.5:c.2104T>A MANE Select	NP_068743.3:p.Cys702Ser
NM_031264.4:c.1522T>A	NP_112554.3:p.Cys508Ser
NM_001171968.3:c.2086T>A	NP_001165439.2:p.Cys696Ser
NM_031264.5:c.1522T>A	NP_112554.3:p.Cys508Ser