Canonical Allele Identifier: CA209462257

Gene: CDH23

Linked Data

• dbSNP Id: rs1019012765
• MyVariant Identifiers: chr10:g.73468957T>C (hg19) ; chr10:g.71709200T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71709200T>C , CM000672.2:g.71709200T>C	GRCh38
NC_000010.10:g.73468957T>C , CM000672.1:g.73468957T>C	GRCh37
NC_000010.9:g.73138963T>C	NCBI36
NG_008835.1:g.317254T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.3209T>C MANE Select	ENSP00000224721.9:p.Leu1070Pro
ENST00000398809.9:c.3209T>C	ENSP00000381789.5:p.Leu1070Pro
ENST00000442677.4:c.3209T>C	ENSP00000388894.3:p.Leu1070Pro
ENST00000466757.8:c.2640T>C
ENST00000224721.10:c.3224T>C	ENSP00000224721.8:p.Leu1075Pro
ENST00000398809.8:c.3209T>C	ENSP00000381789.5:p.Leu1070Pro
ENST00000442677.3:c.1984T>C
ENST00000466757.7:c.2640T>C
ENST00000616684.4:c.3209T>C	ENSP00000482036.2:p.Leu1070Pro
ENST00000622827.4:c.3209T>C	ENSP00000483211.1:p.Leu1070Pro
NM_001171930.1:c.3209T>C	NP_001165401.1:p.Leu1070Pro
NM_022124.5:c.3209T>C	NP_071407.4:p.Leu1070Pro
XM_006717940.2:c.3404T>C	XP_006718003.1:p.Leu1135Pro
XM_006717942.2:c.3338T>C	XP_006718005.1:p.Leu1113Pro
XM_011540039.1:c.3404T>C	XP_011538341.1:p.Leu1135Pro
XM_011540040.1:c.3398T>C	XP_011538342.1:p.Leu1133Pro
XM_011540041.1:c.3344T>C	XP_011538343.1:p.Leu1115Pro
XM_011540042.1:c.3404T>C	XP_011538344.1:p.Leu1135Pro
XM_011540043.1:c.3404T>C	XP_011538345.1:p.Leu1135Pro
XM_011540044.1:c.3269T>C	XP_011538346.1:p.Leu1090Pro
XM_011540045.1:c.3404T>C	XP_011538347.1:p.Leu1135Pro
XM_011540046.1:c.2864T>C	XP_011538348.1:p.Leu955Pro
XM_011540047.1:c.2222T>C	XP_011538349.1:p.Leu741Pro
XM_011540048.1:c.3404T>C	XP_011538350.1:p.Leu1135Pro
XM_011540049.1:c.3404T>C	XP_011538351.1:p.Leu1135Pro
XM_011540050.1:c.3404T>C	XP_011538352.1:p.Leu1135Pro
XM_011540051.1:c.3404T>C	XP_011538353.1:p.Leu1135Pro
XM_011540053.1:c.3404T>C	XP_011538355.1:p.Leu1135Pro
XR_945796.1:n.3647T>C
NM_001171930.2:c.3209T>C	NP_001165401.1:p.Leu1070Pro
NM_022124.6:c.3209T>C MANE Select	NP_071407.4:p.Leu1070Pro