Canonical Allele Identifier: CA5547218

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71815146G>A , CM000672.2:g.71815146G>A	GRCh38
NC_000010.10:g.73574903G>A , CM000672.1:g.73574903G>A	GRCh37
NC_000010.9:g.73244909G>A	NCBI36
NG_008835.1:g.423200G>A
NG_009301.1:g.41180C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.9933G>A MANE Select	NP_071407.4:p.Ser3311=
ENST00000224721.12:c.9933G>A MANE Select	ENSP00000224721.9:p.Ser3311=
NM_001171933.1:c.3213G>A	NP_001165404.1:p.Ser1071=
NM_001171934.1:c.3108G>A	NP_001165405.1:p.Ser1036=
NM_001171935.1:c.624G>A	NP_001165406.1:p.Ser208=
NM_001171936.1:c.519G>A	NP_001165407.1:p.Ser173=
NM_022124.5:c.9933G>A	NP_071407.4:p.Ser3311=
ENST00000224721.10:c.9948G>A	ENSP00000224721.8:p.Ser3316=
ENST00000398788.4:c.3213G>A	ENSP00000381768.3:p.Ser1071=
ENST00000475158.1:n.3364G>A
ENST00000619887.4:c.3108G>A	ENSP00000478374.1:p.Ser1036=
ENST00000622827.4:c.9933G>A	ENSP00000483211.1:p.Ser3311=
ENST00000642965.1:c.3866G>A	ENSP00000495222.1:n.3866G>A
ENST00000647092.1:c.3425G>A	ENSP00000495176.1:n.3425G>A
XM_006717940.2:c.10128G>A	XP_006718003.1:p.Ser3376=
XM_006717942.2:c.10062G>A	XP_006718005.1:p.Ser3354=
XM_011540039.1:c.10125G>A	XP_011538341.1:p.Ser3375=
XM_011540040.1:c.10122G>A	XP_011538342.1:p.Ser3374=
XM_011540041.1:c.10068G>A	XP_011538343.1:p.Ser3356=
XM_011540042.1:c.10038G>A	XP_011538344.1:p.Ser3346=
XM_011540043.1:c.10023G>A	XP_011538345.1:p.Ser3341=
XM_011540044.1:c.9993G>A	XP_011538346.1:p.Ser3331=
XM_011540046.1:c.9588G>A	XP_011538348.1:p.Ser3196=
XM_011540047.1:c.8946G>A	XP_011538349.1:p.Ser2982=
XM_011540052.1:c.6456G>A	XP_011538354.1:p.Ser2152=