Canonical Allele Identifier: CA377131376

Gene: CDH23

Linked Data

• dbSNP Id: rs1250112273
• gnomAD v2: 10-73567314-T-C
• gnomAD v4: 10-71807557-T-C
• MyVariant Identifiers: chr10:g.73567314T>C (hg19) ; chr10:g.71807557T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807557T>C , CM000672.2:g.71807557T>C	GRCh38
NC_000010.10:g.73567314T>C , CM000672.1:g.73567314T>C	GRCh37
NC_000010.9:g.73237320T>C	NCBI36
NG_008835.1:g.415611T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.8350T>C MANE Select	ENSP00000224721.9:p.Cys2784Arg
ENST00000642965.1:c.2283T>C	ENSP00000495222.1:n.2283T>C
ENST00000647092.1:c.1947T>C	ENSP00000495176.1:n.1947T>C
ENST00000224721.10:c.8365T>C	ENSP00000224721.8:p.Cys2789Arg
ENST00000398788.4:c.1630T>C	ENSP00000381768.3:p.Cys544Arg
ENST00000475158.1:n.1886T>C
ENST00000619887.4:c.1630T>C	ENSP00000478374.1:p.Cys544Arg
ENST00000622827.4:c.8350T>C	ENSP00000483211.1:p.Cys2784Arg
NM_001171933.1:c.1630T>C	NP_001165404.1:p.Cys544Arg
NM_001171934.1:c.1630T>C	NP_001165405.1:p.Cys544Arg
NM_022124.5:c.8350T>C	NP_071407.4:p.Cys2784Arg
XM_006717940.2:c.8545T>C	XP_006718003.1:p.Cys2849Arg
XM_006717942.2:c.8479T>C	XP_006718005.1:p.Cys2827Arg
XM_011540039.1:c.8542T>C	XP_011538341.1:p.Cys2848Arg
XM_011540040.1:c.8539T>C	XP_011538342.1:p.Cys2847Arg
XM_011540041.1:c.8485T>C	XP_011538343.1:p.Cys2829Arg
XM_011540042.1:c.8455T>C	XP_011538344.1:p.Cys2819Arg
XM_011540043.1:c.8545T>C	XP_011538345.1:p.Cys2849Arg
XM_011540044.1:c.8410T>C	XP_011538346.1:p.Cys2804Arg
XM_011540045.1:c.8545T>C	XP_011538347.1:p.Cys2849Arg
XM_011540046.1:c.8005T>C	XP_011538348.1:p.Cys2669Arg
XM_011540047.1:c.7363T>C	XP_011538349.1:p.Cys2455Arg
XM_011540052.1:c.4873T>C	XP_011538354.1:p.Cys1625Arg
NM_022124.6:c.8350T>C MANE Select	NP_071407.4:p.Cys2784Arg