Canonical Allele Identifier: CA5544505

Gene: CDH23

Linked Data

• ClinVar Variation Id: 2165936
• ClinVar RCV Id: RCV003084625
• dbSNP Id: rs771383443
• ExAC: 10:73468931 G / C
• gnomAD v2: 10-73468931-G-C
• MyVariant Identifiers: chr10:g.73468931G>C (hg19) ; chr10:g.71709174G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71709174G>C , CM000672.2:g.71709174G>C	GRCh38
NC_000010.10:g.73468931G>C , CM000672.1:g.73468931G>C	GRCh37
NC_000010.9:g.73138937G>C	NCBI36
NG_008835.1:g.317228G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.3183G>C MANE Select	ENSP00000224721.9:p.Glu1061Asp
ENST00000398809.9:c.3183G>C	ENSP00000381789.5:p.Glu1061Asp
ENST00000442677.4:c.3183G>C	ENSP00000388894.3:p.Glu1061Asp
ENST00000466757.8:c.2614G>C
ENST00000224721.10:c.3198G>C	ENSP00000224721.8:p.Glu1066Asp
ENST00000398809.8:c.3183G>C	ENSP00000381789.5:p.Glu1061Asp
ENST00000442677.3:c.1958G>C
ENST00000466757.7:c.2614G>C
ENST00000616684.4:c.3183G>C	ENSP00000482036.2:p.Glu1061Asp
ENST00000622827.4:c.3183G>C	ENSP00000483211.1:p.Glu1061Asp
NM_001171930.1:c.3183G>C	NP_001165401.1:p.Glu1061Asp
NM_022124.5:c.3183G>C	NP_071407.4:p.Glu1061Asp
XM_006717940.2:c.3378G>C	XP_006718003.1:p.Glu1126Asp
XM_006717942.2:c.3312G>C	XP_006718005.1:p.Glu1104Asp
XM_011540039.1:c.3378G>C	XP_011538341.1:p.Glu1126Asp
XM_011540040.1:c.3372G>C	XP_011538342.1:p.Glu1124Asp
XM_011540041.1:c.3318G>C	XP_011538343.1:p.Glu1106Asp
XM_011540042.1:c.3378G>C	XP_011538344.1:p.Glu1126Asp
XM_011540043.1:c.3378G>C	XP_011538345.1:p.Glu1126Asp
XM_011540044.1:c.3243G>C	XP_011538346.1:p.Glu1081Asp
XM_011540045.1:c.3378G>C	XP_011538347.1:p.Glu1126Asp
XM_011540046.1:c.2838G>C	XP_011538348.1:p.Glu946Asp
XM_011540047.1:c.2196G>C	XP_011538349.1:p.Glu732Asp
XM_011540048.1:c.3378G>C	XP_011538350.1:p.Glu1126Asp
XM_011540049.1:c.3378G>C	XP_011538351.1:p.Glu1126Asp
XM_011540050.1:c.3378G>C	XP_011538352.1:p.Glu1126Asp
XM_011540051.1:c.3378G>C	XP_011538353.1:p.Glu1126Asp
XM_011540053.1:c.3378G>C	XP_011538355.1:p.Glu1126Asp
XR_945796.1:n.3621G>C
NM_001171930.2:c.3183G>C	NP_001165401.1:p.Glu1061Asp
NM_022124.6:c.3183G>C MANE Select	NP_071407.4:p.Glu1061Asp