Canonical Allele Identifier: CA377131646

Gene: CDH23

Linked Data

• MyVariant Identifiers: chr10:g.73567454G>T (hg19) ; chr10:g.71807697G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807697G>T , CM000672.2:g.71807697G>T	GRCh38
NC_000010.10:g.73567454G>T , CM000672.1:g.73567454G>T	GRCh37
NC_000010.9:g.73237460G>T	NCBI36
NG_008835.1:g.415751G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.8490G>T MANE Select	ENSP00000224721.9:p.Gln2830His
ENST00000642965.1:c.2423G>T	ENSP00000495222.1:n.2423G>T
ENST00000647092.1:c.2087G>T	ENSP00000495176.1:n.2087G>T
ENST00000224721.10:c.8505G>T	ENSP00000224721.8:p.Gln2835His
ENST00000398788.4:c.1770G>T	ENSP00000381768.3:p.Gln590His
ENST00000475158.1:n.2026G>T
ENST00000619887.4:c.1770G>T	ENSP00000478374.1:p.Gln590His
ENST00000622827.4:c.8490G>T	ENSP00000483211.1:p.Gln2830His
NM_001171933.1:c.1770G>T	NP_001165404.1:p.Gln590His
NM_001171934.1:c.1770G>T	NP_001165405.1:p.Gln590His
NM_022124.5:c.8490G>T	NP_071407.4:p.Gln2830His
XM_006717940.2:c.8685G>T	XP_006718003.1:p.Gln2895His
XM_006717942.2:c.8619G>T	XP_006718005.1:p.Gln2873His
XM_011540039.1:c.8682G>T	XP_011538341.1:p.Gln2894His
XM_011540040.1:c.8679G>T	XP_011538342.1:p.Gln2893His
XM_011540041.1:c.8625G>T	XP_011538343.1:p.Gln2875His
XM_011540042.1:c.8595G>T	XP_011538344.1:p.Gln2865His
XM_011540043.1:c.8685G>T	XP_011538345.1:p.Gln2895His
XM_011540044.1:c.8550G>T	XP_011538346.1:p.Gln2850His
XM_011540045.1:c.8685G>T	XP_011538347.1:p.Gln2895His
XM_011540046.1:c.8145G>T	XP_011538348.1:p.Gln2715His
XM_011540047.1:c.7503G>T	XP_011538349.1:p.Gln2501His
XM_011540052.1:c.5013G>T	XP_011538354.1:p.Gln1671His
NM_022124.6:c.8490G>T MANE Select	NP_071407.4:p.Gln2830His