Canonical Allele Identifier: CA377127788

Gene: CDH23

Linked Data

• MyVariant Identifiers: chr10:g.73405693G>C (hg19) ; chr10:g.71645936G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71645936G>C , CM000672.2:g.71645936G>C	GRCh38
NC_000010.10:g.73405693G>C , CM000672.1:g.73405693G>C	GRCh37
NC_000010.9:g.73075699G>C	NCBI36
NG_008835.1:g.253990G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.1246G>C MANE Select	ENSP00000224721.9:p.Ala416Pro
ENST00000398809.9:c.1246G>C	ENSP00000381789.5:p.Ala416Pro
ENST00000442677.4:c.1246G>C	ENSP00000388894.3:p.Ala416Pro
ENST00000466757.8:c.677G>C
ENST00000643732.1:n.1082G>C
ENST00000646131.1:c.910G>C	ENSP00000495098.1:p.Ala304Pro
ENST00000224721.10:c.1261G>C	ENSP00000224721.8:p.Ala421Pro
ENST00000299366.11:c.1246G>C	ENSP00000299366.8:p.Ala416Pro
ENST00000398809.8:c.1246G>C	ENSP00000381789.5:p.Ala416Pro
ENST00000398842.7:c.991G>C	ENSP00000381822.4:p.Ala331Pro
ENST00000442677.3:c.21G>C
ENST00000461841.7:c.1246G>C	ENSP00000473454.2:p.Ala416Pro
ENST00000466757.7:c.677G>C
ENST00000470494.5:c.215G>C
ENST00000616684.4:c.1246G>C	ENSP00000482036.2:p.Ala416Pro
ENST00000622827.4:c.1246G>C	ENSP00000483211.1:p.Ala416Pro
NM_001171930.1:c.1246G>C	NP_001165401.1:p.Ala416Pro
NM_001171931.1:c.1246G>C	NP_001165402.1:p.Ala416Pro
NM_022124.5:c.1246G>C	NP_071407.4:p.Ala416Pro
NM_052836.3:c.1246G>C	NP_443068.1:p.Ala416Pro
XM_006717940.2:c.1441G>C	XP_006718003.1:p.Ala481Pro
XM_006717942.2:c.1375G>C	XP_006718005.1:p.Ala459Pro
XM_011540039.1:c.1441G>C	XP_011538341.1:p.Ala481Pro
XM_011540040.1:c.1435G>C	XP_011538342.1:p.Ala479Pro
XM_011540041.1:c.1381G>C	XP_011538343.1:p.Ala461Pro
XM_011540042.1:c.1441G>C	XP_011538344.1:p.Ala481Pro
XM_011540043.1:c.1441G>C	XP_011538345.1:p.Ala481Pro
XM_011540044.1:c.1306G>C	XP_011538346.1:p.Ala436Pro
XM_011540045.1:c.1441G>C	XP_011538347.1:p.Ala481Pro
XM_011540046.1:c.901G>C	XP_011538348.1:p.Ala301Pro
XM_011540047.1:c.259G>C	XP_011538349.1:p.Ala87Pro
XM_011540048.1:c.1441G>C	XP_011538350.1:p.Ala481Pro
XM_011540049.1:c.1441G>C	XP_011538351.1:p.Ala481Pro
XM_011540050.1:c.1441G>C	XP_011538352.1:p.Ala481Pro
XM_011540051.1:c.1441G>C	XP_011538353.1:p.Ala481Pro
XM_011540053.1:c.1441G>C	XP_011538355.1:p.Ala481Pro
XM_011540054.1:c.1381G>C	XP_011538356.1:p.Ala461Pro
XR_945796.1:n.1684G>C
NM_001171930.2:c.1246G>C	NP_001165401.1:p.Ala416Pro
NM_001171931.2:c.1246G>C	NP_001165402.1:p.Ala416Pro
NM_022124.6:c.1246G>C MANE Select	NP_071407.4:p.Ala416Pro
NM_052836.4:c.1246G>C	NP_443068.1:p.Ala416Pro