Canonical Allele Identifier: CA377131396

Gene: CDH23

Linked Data

• MyVariant Identifiers: chr10:g.73567324T>A (hg19) ; chr10:g.71807567T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807567T>A , CM000672.2:g.71807567T>A	GRCh38
NC_000010.10:g.73567324T>A , CM000672.1:g.73567324T>A	GRCh37
NC_000010.9:g.73237330T>A	NCBI36
NG_008835.1:g.415621T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.8360T>A MANE Select	ENSP00000224721.9:p.Val2787Glu
ENST00000642965.1:c.2293T>A	ENSP00000495222.1:n.2293T>A
ENST00000647092.1:c.1957T>A	ENSP00000495176.1:n.1957T>A
ENST00000224721.10:c.8375T>A	ENSP00000224721.8:p.Val2792Glu
ENST00000398788.4:c.1640T>A	ENSP00000381768.3:p.Val547Glu
ENST00000475158.1:n.1896T>A
ENST00000619887.4:c.1640T>A	ENSP00000478374.1:p.Val547Glu
ENST00000622827.4:c.8360T>A	ENSP00000483211.1:p.Val2787Glu
NM_001171933.1:c.1640T>A	NP_001165404.1:p.Val547Glu
NM_001171934.1:c.1640T>A	NP_001165405.1:p.Val547Glu
NM_022124.5:c.8360T>A	NP_071407.4:p.Val2787Glu
XM_006717940.2:c.8555T>A	XP_006718003.1:p.Val2852Glu
XM_006717942.2:c.8489T>A	XP_006718005.1:p.Val2830Glu
XM_011540039.1:c.8552T>A	XP_011538341.1:p.Val2851Glu
XM_011540040.1:c.8549T>A	XP_011538342.1:p.Val2850Glu
XM_011540041.1:c.8495T>A	XP_011538343.1:p.Val2832Glu
XM_011540042.1:c.8465T>A	XP_011538344.1:p.Val2822Glu
XM_011540043.1:c.8555T>A	XP_011538345.1:p.Val2852Glu
XM_011540044.1:c.8420T>A	XP_011538346.1:p.Val2807Glu
XM_011540045.1:c.8555T>A	XP_011538347.1:p.Val2852Glu
XM_011540046.1:c.8015T>A	XP_011538348.1:p.Val2672Glu
XM_011540047.1:c.7373T>A	XP_011538349.1:p.Val2458Glu
XM_011540052.1:c.4883T>A	XP_011538354.1:p.Val1628Glu
NM_022124.6:c.8360T>A MANE Select	NP_071407.4:p.Val2787Glu