Canonical Allele Identifier: CA377157682

Gene: CDH23

Linked Data

• MyVariant Identifiers: chr10:g.73558132T>C (hg19) ; chr10:g.71798375T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798375T>C , CM000672.2:g.71798375T>C	GRCh38
NC_000010.10:g.73558132T>C , CM000672.1:g.73558132T>C	GRCh37
NC_000010.9:g.73228138T>C	NCBI36
NG_008835.1:g.406429T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6851T>C MANE Select	ENSP00000224721.9:p.Leu2284Pro
ENST00000642965.1:c.784T>C	ENSP00000495222.1:n.784T>C
ENST00000647092.1:c.448T>C	ENSP00000495176.1:n.448T>C
ENST00000224721.10:c.6866T>C	ENSP00000224721.8:p.Leu2289Pro
ENST00000398788.4:c.131T>C	ENSP00000381768.3:p.Leu44Pro
ENST00000475158.1:n.387T>C
ENST00000619887.4:c.131T>C	ENSP00000478374.1:p.Leu44Pro
ENST00000622827.4:c.6851T>C	ENSP00000483211.1:p.Leu2284Pro
NM_001171933.1:c.131T>C	NP_001165404.1:p.Leu44Pro
NM_001171934.1:c.131T>C	NP_001165405.1:p.Leu44Pro
NM_022124.5:c.6851T>C	NP_071407.4:p.Leu2284Pro
XM_006717940.2:c.7046T>C	XP_006718003.1:p.Leu2349Pro
XM_006717942.2:c.6980T>C	XP_006718005.1:p.Leu2327Pro
XM_011540039.1:c.7043T>C	XP_011538341.1:p.Leu2348Pro
XM_011540040.1:c.7040T>C	XP_011538342.1:p.Leu2347Pro
XM_011540041.1:c.6986T>C	XP_011538343.1:p.Leu2329Pro
XM_011540042.1:c.6956T>C	XP_011538344.1:p.Leu2319Pro
XM_011540043.1:c.7046T>C	XP_011538345.1:p.Leu2349Pro
XM_011540044.1:c.6911T>C	XP_011538346.1:p.Leu2304Pro
XM_011540045.1:c.7046T>C	XP_011538347.1:p.Leu2349Pro
XM_011540046.1:c.6506T>C	XP_011538348.1:p.Leu2169Pro
XM_011540047.1:c.5864T>C	XP_011538349.1:p.Leu1955Pro
XM_011540052.1:c.3374T>C	XP_011538354.1:p.Leu1125Pro
NM_022124.6:c.6851T>C MANE Select	NP_071407.4:p.Leu2284Pro