Canonical Allele Identifier: CA377160925

Gene: CDH23

Linked Data

• MyVariant Identifiers: chr10:g.73562811T>C (hg19) ; chr10:g.71803054T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71803054T>C , CM000672.2:g.71803054T>C	GRCh38
NC_000010.10:g.73562811T>C , CM000672.1:g.73562811T>C	GRCh37
NC_000010.9:g.73232817T>C	NCBI36
NG_008835.1:g.411108T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.7639T>C MANE Select	ENSP00000224721.9:p.Ser2547Pro
ENST00000642965.1:c.1572T>C	ENSP00000495222.1:n.1572T>C
ENST00000647092.1:c.1236T>C	ENSP00000495176.1:n.1236T>C
ENST00000224721.10:c.7654T>C	ENSP00000224721.8:p.Ser2552Pro
ENST00000398788.4:c.919T>C	ENSP00000381768.3:p.Ser307Pro
ENST00000475158.1:n.1175T>C
ENST00000619887.4:c.919T>C	ENSP00000478374.1:p.Ser307Pro
ENST00000622827.4:c.7639T>C	ENSP00000483211.1:p.Ser2547Pro
NM_001171933.1:c.919T>C	NP_001165404.1:p.Ser307Pro
NM_001171934.1:c.919T>C	NP_001165405.1:p.Ser307Pro
NM_022124.5:c.7639T>C	NP_071407.4:p.Ser2547Pro
XM_006717940.2:c.7834T>C	XP_006718003.1:p.Ser2612Pro
XM_006717942.2:c.7768T>C	XP_006718005.1:p.Ser2590Pro
XM_011540039.1:c.7831T>C	XP_011538341.1:p.Ser2611Pro
XM_011540040.1:c.7828T>C	XP_011538342.1:p.Ser2610Pro
XM_011540041.1:c.7774T>C	XP_011538343.1:p.Ser2592Pro
XM_011540042.1:c.7744T>C	XP_011538344.1:p.Ser2582Pro
XM_011540043.1:c.7834T>C	XP_011538345.1:p.Ser2612Pro
XM_011540044.1:c.7699T>C	XP_011538346.1:p.Ser2567Pro
XM_011540045.1:c.7834T>C	XP_011538347.1:p.Ser2612Pro
XM_011540046.1:c.7294T>C	XP_011538348.1:p.Ser2432Pro
XM_011540047.1:c.6652T>C	XP_011538349.1:p.Ser2218Pro
XM_011540052.1:c.4162T>C	XP_011538354.1:p.Ser1388Pro
NM_022124.6:c.7639T>C MANE Select	NP_071407.4:p.Ser2547Pro