Canonical Allele Identifier: CA377131306

Gene: CDH23

Linked Data

• gnomAD v4: 10-71807527-G-C
• MyVariant Identifiers: chr10:g.73567284G>C (hg19) ; chr10:g.71807527G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807527G>C , CM000672.2:g.71807527G>C	GRCh38
NC_000010.10:g.73567284G>C , CM000672.1:g.73567284G>C	GRCh37
NC_000010.9:g.73237290G>C	NCBI36
NG_008835.1:g.415581G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.8320G>C MANE Select	ENSP00000224721.9:p.Glu2774Gln
ENST00000642965.1:c.2253G>C	ENSP00000495222.1:n.2253G>C
ENST00000647092.1:c.1917G>C	ENSP00000495176.1:n.1917G>C
ENST00000224721.10:c.8335G>C	ENSP00000224721.8:p.Glu2779Gln
ENST00000398788.4:c.1600G>C	ENSP00000381768.3:p.Glu534Gln
ENST00000475158.1:n.1856G>C
ENST00000619887.4:c.1600G>C	ENSP00000478374.1:p.Glu534Gln
ENST00000622827.4:c.8320G>C	ENSP00000483211.1:p.Glu2774Gln
NM_001171933.1:c.1600G>C	NP_001165404.1:p.Glu534Gln
NM_001171934.1:c.1600G>C	NP_001165405.1:p.Glu534Gln
NM_022124.5:c.8320G>C	NP_071407.4:p.Glu2774Gln
XM_006717940.2:c.8515G>C	XP_006718003.1:p.Glu2839Gln
XM_006717942.2:c.8449G>C	XP_006718005.1:p.Glu2817Gln
XM_011540039.1:c.8512G>C	XP_011538341.1:p.Glu2838Gln
XM_011540040.1:c.8509G>C	XP_011538342.1:p.Glu2837Gln
XM_011540041.1:c.8455G>C	XP_011538343.1:p.Glu2819Gln
XM_011540042.1:c.8425G>C	XP_011538344.1:p.Glu2809Gln
XM_011540043.1:c.8515G>C	XP_011538345.1:p.Glu2839Gln
XM_011540044.1:c.8380G>C	XP_011538346.1:p.Glu2794Gln
XM_011540045.1:c.8515G>C	XP_011538347.1:p.Glu2839Gln
XM_011540046.1:c.7975G>C	XP_011538348.1:p.Glu2659Gln
XM_011540047.1:c.7333G>C	XP_011538349.1:p.Glu2445Gln
XM_011540052.1:c.4843G>C	XP_011538354.1:p.Glu1615Gln
NM_022124.6:c.8320G>C MANE Select	NP_071407.4:p.Glu2774Gln