Canonical Allele Identifier: CA5545788

Gene: CDH23

Linked Data

• ClinVar Variation Id: 261552
• ClinVar RCV Id: RCV000243730 ; RCV000835157 ; RCV001533706 ; RCV001533707
• dbSNP Id: rs7068810
• ExAC: 10:73544604 T / C
• gnomAD v2: 10-73544604-T-C
• gnomAD v3: 10-71784847-T-C
• gnomAD v4: 10-71784847-T-C
• MyVariant Identifiers: chr10:g.73544604T>C (hg19) ; chr10:g.71784847T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71784847T>C , CM000672.2:g.71784847T>C	GRCh38
NC_000010.10:g.73544604T>C , CM000672.1:g.73544604T>C	GRCh37
NC_000010.9:g.73214610T>C	NCBI36
NG_008835.1:g.392901T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.5503-44T>C MANE Select	ENSP00000224721.9:n.5503-44T>C
ENST00000224721.10:c.5518-44T>C	ENSP00000224721.8:n.5518-44T>C
ENST00000622827.4:c.5503-44T>C	ENSP00000483211.1:n.5503-44T>C
NM_022124.5:c.5503-44T>C	NP_071407.4:n.5503-44T>C
XM_006717940.2:c.5698-44T>C	XP_006718003.1:n.5698-44T>C
XM_006717942.2:c.5632-44T>C	XP_006718005.1:n.5632-44T>C
XM_011540039.1:c.5695-44T>C	XP_011538341.1:n.5695-44T>C
XM_011540040.1:c.5692-44T>C	XP_011538342.1:n.5692-44T>C
XM_011540041.1:c.5638-44T>C	XP_011538343.1:n.5638-44T>C
XM_011540042.1:c.5698-44T>C	XP_011538344.1:n.5698-44T>C
XM_011540043.1:c.5698-44T>C	XP_011538345.1:n.5698-44T>C
XM_011540044.1:c.5563-44T>C	XP_011538346.1:n.5563-44T>C
XM_011540045.1:c.5698-44T>C	XP_011538347.1:n.5698-44T>C
XM_011540046.1:c.5158-44T>C	XP_011538348.1:n.5158-44T>C
XM_011540047.1:c.4516-44T>C	XP_011538349.1:n.4516-44T>C
XM_011540048.1:c.5698-44T>C	XP_011538350.1:n.5698-44T>C
XM_011540049.1:c.5698-44T>C	XP_011538351.1:n.5698-44T>C
XM_011540050.1:c.5698-44T>C	XP_011538352.1:n.5698-44T>C
XM_011540051.1:c.5698-44T>C	XP_011538353.1:n.5698-44T>C
XM_011540052.1:c.2026-44T>C	XP_011538354.1:n.2026-44T>C
XM_011540053.1:c.5698-44T>C	XP_011538355.1:n.5698-44T>C
XR_945796.1:n.5941-44T>C
NM_022124.6:c.5503-44T>C MANE Select	NP_071407.4:n.5503-44T>C