Canonical Allele Identifier: CA377158507

Gene: CDH23

Linked Data

• MyVariant Identifiers: chr10:g.73558326T>C (hg19) ; chr10:g.71798569T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798569T>C , CM000672.2:g.71798569T>C	GRCh38
NC_000010.10:g.73558326T>C , CM000672.1:g.73558326T>C	GRCh37
NC_000010.9:g.73228332T>C	NCBI36
NG_008835.1:g.406623T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7045T>C MANE Select	ENSP00000224721.9:p.Ser2349Pro
ENST00000642965.1:c.978T>C	ENSP00000495222.1:n.978T>C
ENST00000647092.1:c.642T>C	ENSP00000495176.1:n.642T>C
ENST00000224721.10:c.7060T>C	ENSP00000224721.8:p.Ser2354Pro
ENST00000398788.4:c.325T>C	ENSP00000381768.3:p.Ser109Pro
ENST00000475158.1:n.581T>C
ENST00000619887.4:c.325T>C	ENSP00000478374.1:p.Ser109Pro
ENST00000622827.4:c.7045T>C	ENSP00000483211.1:p.Ser2349Pro
NM_001171933.1:c.325T>C	NP_001165404.1:p.Ser109Pro
NM_001171934.1:c.325T>C	NP_001165405.1:p.Ser109Pro
NM_022124.5:c.7045T>C	NP_071407.4:p.Ser2349Pro
XM_006717940.2:c.7240T>C	XP_006718003.1:p.Ser2414Pro
XM_006717942.2:c.7174T>C	XP_006718005.1:p.Ser2392Pro
XM_011540039.1:c.7237T>C	XP_011538341.1:p.Ser2413Pro
XM_011540040.1:c.7234T>C	XP_011538342.1:p.Ser2412Pro
XM_011540041.1:c.7180T>C	XP_011538343.1:p.Ser2394Pro
XM_011540042.1:c.7150T>C	XP_011538344.1:p.Ser2384Pro
XM_011540043.1:c.7240T>C	XP_011538345.1:p.Ser2414Pro
XM_011540044.1:c.7105T>C	XP_011538346.1:p.Ser2369Pro
XM_011540045.1:c.7240T>C	XP_011538347.1:p.Ser2414Pro
XM_011540046.1:c.6700T>C	XP_011538348.1:p.Ser2234Pro
XM_011540047.1:c.6058T>C	XP_011538349.1:p.Ser2020Pro
XM_011540052.1:c.3568T>C	XP_011538354.1:p.Ser1190Pro
NM_022124.6:c.7045T>C MANE Select	NP_071407.4:p.Ser2349Pro