Canonical Allele Identifier: CA377131364

Gene: CDH23

Linked Data

• dbSNP Id: rs202147495
• gnomAD v2: 10-73567308-G-T
• gnomAD v4: 10-71807551-G-T
• MyVariant Identifiers: chr10:g.73567308G>T (hg19) ; chr10:g.71807551G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807551G>T , CM000672.2:g.71807551G>T	GRCh38
NC_000010.10:g.73567308G>T , CM000672.1:g.73567308G>T	GRCh37
NC_000010.9:g.73237314G>T	NCBI36
NG_008835.1:g.415605G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.8344G>T MANE Select	ENSP00000224721.9:p.Asp2782Tyr
ENST00000642965.1:c.2277G>T	ENSP00000495222.1:n.2277G>T
ENST00000647092.1:c.1941G>T	ENSP00000495176.1:n.1941G>T
ENST00000224721.10:c.8359G>T	ENSP00000224721.8:p.Asp2787Tyr
ENST00000398788.4:c.1624G>T	ENSP00000381768.3:p.Asp542Tyr
ENST00000475158.1:n.1880G>T
ENST00000619887.4:c.1624G>T	ENSP00000478374.1:p.Asp542Tyr
ENST00000622827.4:c.8344G>T	ENSP00000483211.1:p.Asp2782Tyr
NM_001171933.1:c.1624G>T	NP_001165404.1:p.Asp542Tyr
NM_001171934.1:c.1624G>T	NP_001165405.1:p.Asp542Tyr
NM_022124.5:c.8344G>T	NP_071407.4:p.Asp2782Tyr
XM_006717940.2:c.8539G>T	XP_006718003.1:p.Asp2847Tyr
XM_006717942.2:c.8473G>T	XP_006718005.1:p.Asp2825Tyr
XM_011540039.1:c.8536G>T	XP_011538341.1:p.Asp2846Tyr
XM_011540040.1:c.8533G>T	XP_011538342.1:p.Asp2845Tyr
XM_011540041.1:c.8479G>T	XP_011538343.1:p.Asp2827Tyr
XM_011540042.1:c.8449G>T	XP_011538344.1:p.Asp2817Tyr
XM_011540043.1:c.8539G>T	XP_011538345.1:p.Asp2847Tyr
XM_011540044.1:c.8404G>T	XP_011538346.1:p.Asp2802Tyr
XM_011540045.1:c.8539G>T	XP_011538347.1:p.Asp2847Tyr
XM_011540046.1:c.7999G>T	XP_011538348.1:p.Asp2667Tyr
XM_011540047.1:c.7357G>T	XP_011538349.1:p.Asp2453Tyr
XM_011540052.1:c.4867G>T	XP_011538354.1:p.Asp1623Tyr
NM_022124.6:c.8344G>T MANE Select	NP_071407.4:p.Asp2782Tyr