Canonical Allele Identifier: CA137647

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71814971A>C , CM000672.2:g.71814971A>C	GRCh38
NC_000010.10:g.73574728A>C , CM000672.1:g.73574728A>C	GRCh37
NC_000010.9:g.73244734A>C	NCBI36
NG_008835.1:g.423025A>C
NG_009301.1:g.41355T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.9758A>C MANE Select	NP_071407.4:p.Asp3253Ala
ENST00000224721.12:c.9758A>C MANE Select	ENSP00000224721.9:p.Asp3253Ala
NM_001171933.1:c.3038A>C	NP_001165404.1:p.Asp1013Ala
NM_001171934.1:c.2933A>C	NP_001165405.1:p.Asp978Ala
NM_001171935.1:c.449A>C	NP_001165406.1:p.Asp150Ala
NM_001171936.1:c.344A>C	NP_001165407.1:p.Asp115Ala
NM_022124.5:c.9758A>C	NP_071407.4:p.Asp3253Ala
ENST00000224721.10:c.9773A>C	ENSP00000224721.8:p.Asp3258Ala
ENST00000398788.4:c.3038A>C	ENSP00000381768.3:p.Asp1013Ala
ENST00000475158.1:n.3189A>C
ENST00000619887.4:c.2933A>C	ENSP00000478374.1:p.Asp978Ala
ENST00000622827.4:c.9758A>C	ENSP00000483211.1:p.Asp3253Ala
ENST00000642965.1:c.3691A>C	ENSP00000495222.1:n.3691A>C
ENST00000647092.1:c.3250A>C	ENSP00000495176.1:n.3250A>C
XM_006717940.2:c.9953A>C	XP_006718003.1:p.Asp3318Ala
XM_006717942.2:c.9887A>C	XP_006718005.1:p.Asp3296Ala
XM_011540039.1:c.9950A>C	XP_011538341.1:p.Asp3317Ala
XM_011540040.1:c.9947A>C	XP_011538342.1:p.Asp3316Ala
XM_011540041.1:c.9893A>C	XP_011538343.1:p.Asp3298Ala
XM_011540042.1:c.9863A>C	XP_011538344.1:p.Asp3288Ala
XM_011540043.1:c.9848A>C	XP_011538345.1:p.Asp3283Ala
XM_011540044.1:c.9818A>C	XP_011538346.1:p.Asp3273Ala
XM_011540046.1:c.9413A>C	XP_011538348.1:p.Asp3138Ala
XM_011540047.1:c.8771A>C	XP_011538349.1:p.Asp2924Ala
XM_011540052.1:c.6281A>C	XP_011538354.1:p.Asp2094Ala