Canonical Allele Identifier: CA209469559

Gene: CDH23

Linked Data

• dbSNP Id: rs932425608
• gnomAD v2: 10-73558149-A-T
• gnomAD v3: 10-71798392-A-T
• gnomAD v4: 10-71798392-A-T
• MyVariant Identifiers: chr10:g.73558149A>T (hg19) ; chr10:g.71798392A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798392A>T , CM000672.2:g.71798392A>T	GRCh38
NC_000010.10:g.73558149A>T , CM000672.1:g.73558149A>T	GRCh37
NC_000010.9:g.73228155A>T	NCBI36
NG_008835.1:g.406446A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6868A>T MANE Select	ENSP00000224721.9:p.Thr2290Ser
ENST00000642965.1:c.801A>T	ENSP00000495222.1:n.801A>T
ENST00000647092.1:c.465A>T	ENSP00000495176.1:n.465A>T
ENST00000224721.10:c.6883A>T	ENSP00000224721.8:p.Thr2295Ser
ENST00000398788.4:c.148A>T	ENSP00000381768.3:p.Thr50Ser
ENST00000475158.1:n.404A>T
ENST00000619887.4:c.148A>T	ENSP00000478374.1:p.Thr50Ser
ENST00000622827.4:c.6868A>T	ENSP00000483211.1:p.Thr2290Ser
NM_001171933.1:c.148A>T	NP_001165404.1:p.Thr50Ser
NM_001171934.1:c.148A>T	NP_001165405.1:p.Thr50Ser
NM_022124.5:c.6868A>T	NP_071407.4:p.Thr2290Ser
XM_006717940.2:c.7063A>T	XP_006718003.1:p.Thr2355Ser
XM_006717942.2:c.6997A>T	XP_006718005.1:p.Thr2333Ser
XM_011540039.1:c.7060A>T	XP_011538341.1:p.Thr2354Ser
XM_011540040.1:c.7057A>T	XP_011538342.1:p.Thr2353Ser
XM_011540041.1:c.7003A>T	XP_011538343.1:p.Thr2335Ser
XM_011540042.1:c.6973A>T	XP_011538344.1:p.Thr2325Ser
XM_011540043.1:c.7063A>T	XP_011538345.1:p.Thr2355Ser
XM_011540044.1:c.6928A>T	XP_011538346.1:p.Thr2310Ser
XM_011540045.1:c.7063A>T	XP_011538347.1:p.Thr2355Ser
XM_011540046.1:c.6523A>T	XP_011538348.1:p.Thr2175Ser
XM_011540047.1:c.5881A>T	XP_011538349.1:p.Thr1961Ser
XM_011540052.1:c.3391A>T	XP_011538354.1:p.Thr1131Ser
NM_022124.6:c.6868A>T MANE Select	NP_071407.4:p.Thr2290Ser