Canonical Allele Identifier: CA377142659

Gene: CDH23

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71779316G>C , CM000672.2:g.71779316G>C	GRCh38
NC_000010.10:g.73539073G>C , CM000672.1:g.73539073G>C	GRCh37
NC_000010.9:g.73209079G>C	NCBI36
NG_008835.1:g.387370G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.5237G>C MANE Select	ENSP00000224721.9:p.Arg1746Pro
ENST00000224721.10:c.5252G>C	ENSP00000224721.8:p.Arg1751Pro
ENST00000622827.4:c.5237G>C	ENSP00000483211.1:p.Arg1746Pro
NM_022124.5:c.5237G>C	NP_071407.4:p.Arg1746Pro
XM_006717940.2:c.5432G>C	XP_006718003.1:p.Arg1811Pro
XM_006717942.2:c.5366G>C	XP_006718005.1:p.Arg1789Pro
XM_011540039.1:c.5429G>C	XP_011538341.1:p.Arg1810Pro
XM_011540040.1:c.5426G>C	XP_011538342.1:p.Arg1809Pro
XM_011540041.1:c.5372G>C	XP_011538343.1:p.Arg1791Pro
XM_011540042.1:c.5432G>C	XP_011538344.1:p.Arg1811Pro
XM_011540043.1:c.5432G>C	XP_011538345.1:p.Arg1811Pro
XM_011540044.1:c.5297G>C	XP_011538346.1:p.Arg1766Pro
XM_011540045.1:c.5432G>C	XP_011538347.1:p.Arg1811Pro
XM_011540046.1:c.4892G>C	XP_011538348.1:p.Arg1631Pro
XM_011540047.1:c.4250G>C	XP_011538349.1:p.Arg1417Pro
XM_011540048.1:c.5432G>C	XP_011538350.1:p.Arg1811Pro
XM_011540049.1:c.5432G>C	XP_011538351.1:p.Arg1811Pro
XM_011540050.1:c.5432G>C	XP_011538352.1:p.Arg1811Pro
XM_011540051.1:c.5432G>C	XP_011538353.1:p.Arg1811Pro
XM_011540052.1:c.1760G>C	XP_011538354.1:p.Arg587Pro
XM_011540053.1:c.5432G>C	XP_011538355.1:p.Arg1811Pro
XR_945796.1:n.5675G>C
NM_022124.6:c.5237G>C MANE Select	NP_071407.4:p.Arg1746Pro