Canonical Allele Identifier: CA5545800

Gene: CDH23

Linked Data

• dbSNP Id: rs762881623
• ExAC: 10:73544655 T / C
• gnomAD v2: 10-73544655-T-C
• gnomAD v4: 10-71784898-T-C
• MyVariant Identifiers: chr10:g.73544655T>C (hg19) ; chr10:g.71784898T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71784898T>C , CM000672.2:g.71784898T>C	GRCh38
NC_000010.10:g.73544655T>C , CM000672.1:g.73544655T>C	GRCh37
NC_000010.9:g.73214661T>C	NCBI36
NG_008835.1:g.392952T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.5510T>C MANE Select	ENSP00000224721.9:p.Val1837Ala
ENST00000224721.10:c.5525T>C	ENSP00000224721.8:p.Val1842Ala
ENST00000622827.4:c.5510T>C	ENSP00000483211.1:p.Val1837Ala
NM_022124.5:c.5510T>C	NP_071407.4:p.Val1837Ala
XM_006717940.2:c.5705T>C	XP_006718003.1:p.Val1902Ala
XM_006717942.2:c.5639T>C	XP_006718005.1:p.Val1880Ala
XM_011540039.1:c.5702T>C	XP_011538341.1:p.Val1901Ala
XM_011540040.1:c.5699T>C	XP_011538342.1:p.Val1900Ala
XM_011540041.1:c.5645T>C	XP_011538343.1:p.Val1882Ala
XM_011540042.1:c.5705T>C	XP_011538344.1:p.Val1902Ala
XM_011540043.1:c.5705T>C	XP_011538345.1:p.Val1902Ala
XM_011540044.1:c.5570T>C	XP_011538346.1:p.Val1857Ala
XM_011540045.1:c.5705T>C	XP_011538347.1:p.Val1902Ala
XM_011540046.1:c.5165T>C	XP_011538348.1:p.Val1722Ala
XM_011540047.1:c.4523T>C	XP_011538349.1:p.Val1508Ala
XM_011540048.1:c.5705T>C	XP_011538350.1:p.Val1902Ala
XM_011540049.1:c.5705T>C	XP_011538351.1:p.Val1902Ala
XM_011540050.1:c.5705T>C	XP_011538352.1:p.Val1902Ala
XM_011540051.1:c.5705T>C	XP_011538353.1:p.Val1902Ala
XM_011540052.1:c.2033T>C	XP_011538354.1:p.Val678Ala
XM_011540053.1:c.5705T>C	XP_011538355.1:p.Val1902Ala
XR_945796.1:n.5948T>C
NM_022124.6:c.5510T>C MANE Select	NP_071407.4:p.Val1837Ala