Canonical Allele Identifier: CA377127495

Gene: CDH23

Linked Data

• MyVariant Identifiers: chr10:g.73405616T>C (hg19) ; chr10:g.71645859T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71645859T>C , CM000672.2:g.71645859T>C	GRCh38
NC_000010.10:g.73405616T>C , CM000672.1:g.73405616T>C	GRCh37
NC_000010.9:g.73075622T>C	NCBI36
NG_008835.1:g.253913T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.1169T>C MANE Select	ENSP00000224721.9:p.Leu390Ser
ENST00000398809.9:c.1169T>C	ENSP00000381789.5:p.Leu390Ser
ENST00000442677.4:c.1169T>C	ENSP00000388894.3:p.Leu390Ser
ENST00000466757.8:c.600T>C
ENST00000643732.1:n.1005T>C
ENST00000646131.1:c.833T>C	ENSP00000495098.1:p.Leu278Ser
ENST00000224721.10:c.1184T>C	ENSP00000224721.8:p.Leu395Ser
ENST00000299366.11:c.1169T>C	ENSP00000299366.8:p.Leu390Ser
ENST00000398809.8:c.1169T>C	ENSP00000381789.5:p.Leu390Ser
ENST00000398842.7:c.914T>C	ENSP00000381822.4:p.Leu305Ser
ENST00000461841.7:c.1169T>C	ENSP00000473454.2:p.Leu390Ser
ENST00000466757.7:c.600T>C
ENST00000470494.5:c.138T>C
ENST00000616684.4:c.1169T>C	ENSP00000482036.2:p.Leu390Ser
ENST00000622827.4:c.1169T>C	ENSP00000483211.1:p.Leu390Ser
NM_001171930.1:c.1169T>C	NP_001165401.1:p.Leu390Ser
NM_001171931.1:c.1169T>C	NP_001165402.1:p.Leu390Ser
NM_022124.5:c.1169T>C	NP_071407.4:p.Leu390Ser
NM_052836.3:c.1169T>C	NP_443068.1:p.Leu390Ser
XM_006717940.2:c.1364T>C	XP_006718003.1:p.Leu455Ser
XM_006717942.2:c.1298T>C	XP_006718005.1:p.Leu433Ser
XM_011540039.1:c.1364T>C	XP_011538341.1:p.Leu455Ser
XM_011540040.1:c.1358T>C	XP_011538342.1:p.Leu453Ser
XM_011540041.1:c.1304T>C	XP_011538343.1:p.Leu435Ser
XM_011540042.1:c.1364T>C	XP_011538344.1:p.Leu455Ser
XM_011540043.1:c.1364T>C	XP_011538345.1:p.Leu455Ser
XM_011540044.1:c.1229T>C	XP_011538346.1:p.Leu410Ser
XM_011540045.1:c.1364T>C	XP_011538347.1:p.Leu455Ser
XM_011540046.1:c.824T>C	XP_011538348.1:p.Leu275Ser
XM_011540047.1:c.182T>C	XP_011538349.1:p.Leu61Ser
XM_011540048.1:c.1364T>C	XP_011538350.1:p.Leu455Ser
XM_011540049.1:c.1364T>C	XP_011538351.1:p.Leu455Ser
XM_011540050.1:c.1364T>C	XP_011538352.1:p.Leu455Ser
XM_011540051.1:c.1364T>C	XP_011538353.1:p.Leu455Ser
XM_011540053.1:c.1364T>C	XP_011538355.1:p.Leu455Ser
XM_011540054.1:c.1304T>C	XP_011538356.1:p.Leu435Ser
XR_945796.1:n.1607T>C
NM_001171930.2:c.1169T>C	NP_001165401.1:p.Leu390Ser
NM_001171931.2:c.1169T>C	NP_001165402.1:p.Leu390Ser
NM_022124.6:c.1169T>C MANE Select	NP_071407.4:p.Leu390Ser
NM_052836.4:c.1169T>C	NP_443068.1:p.Leu390Ser