Canonical Allele Identifier: CA377137461

Gene: CDH23

Linked Data

• ClinVar Variation Id: 522662
• ClinVar RCV Id: RCV000625802
• dbSNP Id: rs1554857840
• MyVariant Identifiers: chr10:g.73461791G>A (hg19) ; chr10:g.71702034G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71702034G>A , CM000672.2:g.71702034G>A	GRCh38
NC_000010.10:g.73461791G>A , CM000672.1:g.73461791G>A	GRCh37
NC_000010.9:g.73131797G>A	NCBI36
NG_008835.1:g.310088G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.2410G>A MANE Select	ENSP00000224721.9:p.Asp804Asn
ENST00000398809.9:c.2410G>A	ENSP00000381789.5:p.Asp804Asn
ENST00000442677.4:c.2410G>A	ENSP00000388894.3:p.Asp804Asn
ENST00000466757.8:c.1841G>A
ENST00000224721.10:c.2425G>A	ENSP00000224721.8:p.Asp809Asn
ENST00000299366.11:c.2410G>A	ENSP00000299366.8:p.Asp804Asn
ENST00000398809.8:c.2410G>A	ENSP00000381789.5:p.Asp804Asn
ENST00000442677.3:c.1185G>A
ENST00000466757.7:c.1841G>A
ENST00000616684.4:c.2410G>A	ENSP00000482036.2:p.Asp804Asn
ENST00000622827.4:c.2410G>A	ENSP00000483211.1:p.Asp804Asn
NM_001171930.1:c.2410G>A	NP_001165401.1:p.Asp804Asn
NM_001171931.1:c.2410G>A	NP_001165402.1:p.Asp804Asn
NM_022124.5:c.2410G>A	NP_071407.4:p.Asp804Asn
XM_006717940.2:c.2605G>A	XP_006718003.1:p.Asp869Asn
XM_006717942.2:c.2539G>A	XP_006718005.1:p.Asp847Asn
XM_011540039.1:c.2605G>A	XP_011538341.1:p.Asp869Asn
XM_011540040.1:c.2599G>A	XP_011538342.1:p.Asp867Asn
XM_011540041.1:c.2545G>A	XP_011538343.1:p.Asp849Asn
XM_011540042.1:c.2605G>A	XP_011538344.1:p.Asp869Asn
XM_011540043.1:c.2605G>A	XP_011538345.1:p.Asp869Asn
XM_011540044.1:c.2470G>A	XP_011538346.1:p.Asp824Asn
XM_011540045.1:c.2605G>A	XP_011538347.1:p.Asp869Asn
XM_011540046.1:c.2065G>A	XP_011538348.1:p.Asp689Asn
XM_011540047.1:c.1423G>A	XP_011538349.1:p.Asp475Asn
XM_011540048.1:c.2605G>A	XP_011538350.1:p.Asp869Asn
XM_011540049.1:c.2605G>A	XP_011538351.1:p.Asp869Asn
XM_011540050.1:c.2605G>A	XP_011538352.1:p.Asp869Asn
XM_011540051.1:c.2605G>A	XP_011538353.1:p.Asp869Asn
XM_011540053.1:c.2605G>A	XP_011538355.1:p.Asp869Asn
XM_011540054.1:c.2545G>A	XP_011538356.1:p.Asp849Asn
XR_945796.1:n.2848G>A
NM_001171930.2:c.2410G>A	NP_001165401.1:p.Asp804Asn
NM_001171931.2:c.2410G>A	NP_001165402.1:p.Asp804Asn
NM_022124.6:c.2410G>A MANE Select	NP_071407.4:p.Asp804Asn