Canonical Allele Identifier: CA377160634

Gene: CDH23

Linked Data

• MyVariant Identifiers: chr10:g.73562736G>C (hg19) ; chr10:g.71802979G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71802979G>C , CM000672.2:g.71802979G>C	GRCh38
NC_000010.10:g.73562736G>C , CM000672.1:g.73562736G>C	GRCh37
NC_000010.9:g.73232742G>C	NCBI36
NG_008835.1:g.411033G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.7564G>C MANE Select	ENSP00000224721.9:p.Glu2522Gln
ENST00000642965.1:c.1497G>C	ENSP00000495222.1:n.1497G>C
ENST00000647092.1:c.1161G>C	ENSP00000495176.1:n.1161G>C
ENST00000224721.10:c.7579G>C	ENSP00000224721.8:p.Glu2527Gln
ENST00000398788.4:c.844G>C	ENSP00000381768.3:p.Glu282Gln
ENST00000475158.1:n.1100G>C
ENST00000619887.4:c.844G>C	ENSP00000478374.1:p.Glu282Gln
ENST00000622827.4:c.7564G>C	ENSP00000483211.1:p.Glu2522Gln
NM_001171933.1:c.844G>C	NP_001165404.1:p.Glu282Gln
NM_001171934.1:c.844G>C	NP_001165405.1:p.Glu282Gln
NM_022124.5:c.7564G>C	NP_071407.4:p.Glu2522Gln
XM_006717940.2:c.7759G>C	XP_006718003.1:p.Glu2587Gln
XM_006717942.2:c.7693G>C	XP_006718005.1:p.Glu2565Gln
XM_011540039.1:c.7756G>C	XP_011538341.1:p.Glu2586Gln
XM_011540040.1:c.7753G>C	XP_011538342.1:p.Glu2585Gln
XM_011540041.1:c.7699G>C	XP_011538343.1:p.Glu2567Gln
XM_011540042.1:c.7669G>C	XP_011538344.1:p.Glu2557Gln
XM_011540043.1:c.7759G>C	XP_011538345.1:p.Glu2587Gln
XM_011540044.1:c.7624G>C	XP_011538346.1:p.Glu2542Gln
XM_011540045.1:c.7759G>C	XP_011538347.1:p.Glu2587Gln
XM_011540046.1:c.7219G>C	XP_011538348.1:p.Glu2407Gln
XM_011540047.1:c.6577G>C	XP_011538349.1:p.Glu2193Gln
XM_011540052.1:c.4087G>C	XP_011538354.1:p.Glu1363Gln
NM_022124.6:c.7564G>C MANE Select	NP_071407.4:p.Glu2522Gln