Canonical Allele Identifier: CA377157927

Gene: CDH23

Linked Data

• dbSNP Id: rs1841463618
• gnomAD v3: 10-71798443-G-A
• gnomAD v4: 10-71798443-G-A
• MyVariant Identifiers: chr10:g.73558200G>A (hg19) ; chr10:g.71798443G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798443G>A , CM000672.2:g.71798443G>A	GRCh38
NC_000010.10:g.73558200G>A , CM000672.1:g.73558200G>A	GRCh37
NC_000010.9:g.73228206G>A	NCBI36
NG_008835.1:g.406497G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6919G>A MANE Select	ENSP00000224721.9:p.Glu2307Lys
ENST00000642965.1:c.852G>A	ENSP00000495222.1:n.852G>A
ENST00000647092.1:c.516G>A	ENSP00000495176.1:n.516G>A
ENST00000224721.10:c.6934G>A	ENSP00000224721.8:p.Glu2312Lys
ENST00000398788.4:c.199G>A	ENSP00000381768.3:p.Glu67Lys
ENST00000475158.1:n.455G>A
ENST00000619887.4:c.199G>A	ENSP00000478374.1:p.Glu67Lys
ENST00000622827.4:c.6919G>A	ENSP00000483211.1:p.Glu2307Lys
NM_001171933.1:c.199G>A	NP_001165404.1:p.Glu67Lys
NM_001171934.1:c.199G>A	NP_001165405.1:p.Glu67Lys
NM_022124.5:c.6919G>A	NP_071407.4:p.Glu2307Lys
XM_006717940.2:c.7114G>A	XP_006718003.1:p.Glu2372Lys
XM_006717942.2:c.7048G>A	XP_006718005.1:p.Glu2350Lys
XM_011540039.1:c.7111G>A	XP_011538341.1:p.Glu2371Lys
XM_011540040.1:c.7108G>A	XP_011538342.1:p.Glu2370Lys
XM_011540041.1:c.7054G>A	XP_011538343.1:p.Glu2352Lys
XM_011540042.1:c.7024G>A	XP_011538344.1:p.Glu2342Lys
XM_011540043.1:c.7114G>A	XP_011538345.1:p.Glu2372Lys
XM_011540044.1:c.6979G>A	XP_011538346.1:p.Glu2327Lys
XM_011540045.1:c.7114G>A	XP_011538347.1:p.Glu2372Lys
XM_011540046.1:c.6574G>A	XP_011538348.1:p.Glu2192Lys
XM_011540047.1:c.5932G>A	XP_011538349.1:p.Glu1978Lys
XM_011540052.1:c.3442G>A	XP_011538354.1:p.Glu1148Lys
NM_022124.6:c.6919G>A MANE Select	NP_071407.4:p.Glu2307Lys