Canonical Allele Identifier: CA5546057

Gene: CDH23

Linked Data

• ClinVar Variation Id: 866746
• ClinVar RCV Id: RCV001075024 ; RCV001862589
• dbSNP Id: rs371928601
• ExAC: 10:73553019 G / A
• gnomAD v2: 10-73553019-G-A
• gnomAD v3: 10-71793262-G-A
• gnomAD v4: 10-71793262-G-A
• MyVariant Identifiers: chr10:g.73553019G>A (hg19) ; chr10:g.71793262G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793262G>A , CM000672.2:g.71793262G>A	GRCh38
NC_000010.10:g.73553019G>A , CM000672.1:g.73553019G>A	GRCh37
NC_000010.9:g.73223025G>A	NCBI36
NG_008835.1:g.401316G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6334G>A MANE Select	ENSP00000224721.9:p.Ala2112Thr
ENST00000224721.10:c.6349G>A	ENSP00000224721.8:p.Ala2117Thr
ENST00000622827.4:c.6334G>A	ENSP00000483211.1:p.Ala2112Thr
NM_022124.5:c.6334G>A	NP_071407.4:p.Ala2112Thr
XM_006717940.2:c.6529G>A	XP_006718003.1:p.Ala2177Thr
XM_006717942.2:c.6463G>A	XP_006718005.1:p.Ala2155Thr
XM_011540039.1:c.6526G>A	XP_011538341.1:p.Ala2176Thr
XM_011540040.1:c.6523G>A	XP_011538342.1:p.Ala2175Thr
XM_011540041.1:c.6469G>A	XP_011538343.1:p.Ala2157Thr
XM_011540042.1:c.6529G>A	XP_011538344.1:p.Ala2177Thr
XM_011540043.1:c.6529G>A	XP_011538345.1:p.Ala2177Thr
XM_011540044.1:c.6394G>A	XP_011538346.1:p.Ala2132Thr
XM_011540045.1:c.6529G>A	XP_011538347.1:p.Ala2177Thr
XM_011540046.1:c.5989G>A	XP_011538348.1:p.Ala1997Thr
XM_011540047.1:c.5347G>A	XP_011538349.1:p.Ala1783Thr
XM_011540048.1:c.6529G>A	XP_011538350.1:p.Ala2177Thr
XM_011540049.1:c.6529G>A	XP_011538351.1:p.Ala2177Thr
XM_011540050.1:c.6529G>A	XP_011538352.1:p.Ala2177Thr
XM_011540051.1:c.6529G>A	XP_011538353.1:p.Ala2177Thr
XM_011540052.1:c.2857G>A	XP_011538354.1:p.Ala953Thr
XR_945796.1:n.6772G>A
NM_022124.6:c.6334G>A MANE Select	NP_071407.4:p.Ala2112Thr