Canonical Allele Identifier: CA5545842

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1157554
• ClinVar RCV Id: RCV001500690
• dbSNP Id: rs755451021
• ExAC: 10:73544851 T / C
• gnomAD v2: 10-73544851-T-C
• gnomAD v3: 10-71785094-T-C
• gnomAD v4: 10-71785094-T-C
• MyVariant Identifiers: chr10:g.73544851T>C (hg19) ; chr10:g.71785094T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71785094T>C , CM000672.2:g.71785094T>C	GRCh38
NC_000010.10:g.73544851T>C , CM000672.1:g.73544851T>C	GRCh37
NC_000010.9:g.73214857T>C	NCBI36
NG_008835.1:g.393148T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.5706T>C MANE Select	ENSP00000224721.9:p.Asn1902=
ENST00000224721.10:c.5721T>C	ENSP00000224721.8:p.Asn1907=
ENST00000622827.4:c.5706T>C	ENSP00000483211.1:p.Asn1902=
NM_022124.5:c.5706T>C	NP_071407.4:p.Asn1902=
XM_006717940.2:c.5901T>C	XP_006718003.1:p.Asn1967=
XM_006717942.2:c.5835T>C	XP_006718005.1:p.Asn1945=
XM_011540039.1:c.5898T>C	XP_011538341.1:p.Asn1966=
XM_011540040.1:c.5895T>C	XP_011538342.1:p.Asn1965=
XM_011540041.1:c.5841T>C	XP_011538343.1:p.Asn1947=
XM_011540042.1:c.5901T>C	XP_011538344.1:p.Asn1967=
XM_011540043.1:c.5901T>C	XP_011538345.1:p.Asn1967=
XM_011540044.1:c.5766T>C	XP_011538346.1:p.Asn1922=
XM_011540045.1:c.5901T>C	XP_011538347.1:p.Asn1967=
XM_011540046.1:c.5361T>C	XP_011538348.1:p.Asn1787=
XM_011540047.1:c.4719T>C	XP_011538349.1:p.Asn1573=
XM_011540048.1:c.5901T>C	XP_011538350.1:p.Asn1967=
XM_011540049.1:c.5901T>C	XP_011538351.1:p.Asn1967=
XM_011540050.1:c.5901T>C	XP_011538352.1:p.Asn1967=
XM_011540051.1:c.5901T>C	XP_011538353.1:p.Asn1967=
XM_011540052.1:c.2229T>C	XP_011538354.1:p.Asn743=
XM_011540053.1:c.5901T>C	XP_011538355.1:p.Asn1967=
XR_945796.1:n.6144T>C
NM_022124.6:c.5706T>C MANE Select	NP_071407.4:p.Asn1902=