Canonical Allele Identifier: CA377162243

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71805986G>T , CM000672.2:g.71805986G>T	GRCh38
NC_000010.10:g.73565743G>T , CM000672.1:g.73565743G>T	GRCh37
NC_000010.9:g.73235749G>T	NCBI36
NG_008835.1:g.414040G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.8053G>T MANE Select	NP_071407.4:p.Ala2685Ser
ENST00000224721.12:c.8053G>T MANE Select	ENSP00000224721.9:p.Ala2685Ser
NM_001171933.1:c.1333G>T	NP_001165404.1:p.Ala445Ser
NM_001171934.1:c.1333G>T	NP_001165405.1:p.Ala445Ser
NM_022124.5:c.8053G>T	NP_071407.4:p.Ala2685Ser
ENST00000224721.10:c.8068G>T	ENSP00000224721.8:p.Ala2690Ser
ENST00000398788.4:c.1333G>T	ENSP00000381768.3:p.Ala445Ser
ENST00000475158.1:n.1589G>T
ENST00000619887.4:c.1333G>T	ENSP00000478374.1:p.Ala445Ser
ENST00000622827.4:c.8053G>T	ENSP00000483211.1:p.Ala2685Ser
ENST00000642965.1:c.1986G>T	ENSP00000495222.1:n.1986G>T
ENST00000647092.1:c.1650G>T	ENSP00000495176.1:n.1650G>T
XM_006717940.2:c.8248G>T	XP_006718003.1:p.Ala2750Ser
XM_006717942.2:c.8182G>T	XP_006718005.1:p.Ala2728Ser
XM_011540039.1:c.8245G>T	XP_011538341.1:p.Ala2749Ser
XM_011540040.1:c.8242G>T	XP_011538342.1:p.Ala2748Ser
XM_011540041.1:c.8188G>T	XP_011538343.1:p.Ala2730Ser
XM_011540042.1:c.8158G>T	XP_011538344.1:p.Ala2720Ser
XM_011540043.1:c.8248G>T	XP_011538345.1:p.Ala2750Ser
XM_011540044.1:c.8113G>T	XP_011538346.1:p.Ala2705Ser
XM_011540045.1:c.8248G>T	XP_011538347.1:p.Ala2750Ser
XM_011540046.1:c.7708G>T	XP_011538348.1:p.Ala2570Ser
XM_011540047.1:c.7066G>T	XP_011538349.1:p.Ala2356Ser
XM_011540052.1:c.4576G>T	XP_011538354.1:p.Ala1526Ser