Canonical Allele Identifier: CA377162493

Gene: CDH23

Linked Data

• gnomAD v4: 10-71806270-G-T
• MyVariant Identifiers: chr10:g.73566027G>T (hg19) ; chr10:g.71806270G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71806270G>T , CM000672.2:g.71806270G>T	GRCh38
NC_000010.10:g.73566027G>T , CM000672.1:g.73566027G>T	GRCh37
NC_000010.9:g.73236033G>T	NCBI36
NG_008835.1:g.414324G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.8167G>T MANE Select	ENSP00000224721.9:p.Val2723Leu
ENST00000642965.1:c.2100G>T	ENSP00000495222.1:n.2100G>T
ENST00000647092.1:c.1764G>T	ENSP00000495176.1:n.1764G>T
ENST00000224721.10:c.8182G>T	ENSP00000224721.8:p.Val2728Leu
ENST00000398788.4:c.1447G>T	ENSP00000381768.3:p.Val483Leu
ENST00000475158.1:n.1703G>T
ENST00000619887.4:c.1447G>T	ENSP00000478374.1:p.Val483Leu
ENST00000622827.4:c.8167G>T	ENSP00000483211.1:p.Val2723Leu
NM_001171933.1:c.1447G>T	NP_001165404.1:p.Val483Leu
NM_001171934.1:c.1447G>T	NP_001165405.1:p.Val483Leu
NM_022124.5:c.8167G>T	NP_071407.4:p.Val2723Leu
XM_006717940.2:c.8362G>T	XP_006718003.1:p.Val2788Leu
XM_006717942.2:c.8296G>T	XP_006718005.1:p.Val2766Leu
XM_011540039.1:c.8359G>T	XP_011538341.1:p.Val2787Leu
XM_011540040.1:c.8356G>T	XP_011538342.1:p.Val2786Leu
XM_011540041.1:c.8302G>T	XP_011538343.1:p.Val2768Leu
XM_011540042.1:c.8272G>T	XP_011538344.1:p.Val2758Leu
XM_011540043.1:c.8362G>T	XP_011538345.1:p.Val2788Leu
XM_011540044.1:c.8227G>T	XP_011538346.1:p.Val2743Leu
XM_011540045.1:c.8362G>T	XP_011538347.1:p.Val2788Leu
XM_011540046.1:c.7822G>T	XP_011538348.1:p.Val2608Leu
XM_011540047.1:c.7180G>T	XP_011538349.1:p.Val2394Leu
XM_011540052.1:c.4690G>T	XP_011538354.1:p.Val1564Leu
NM_022124.6:c.8167G>T MANE Select	NP_071407.4:p.Val2723Leu