Canonical Allele Identifier: CA5544483

Gene: CDH23

Linked Data

• dbSNP Id: rs780328244
• ExAC: 10:73468861 A / G
• gnomAD v2: 10-73468861-A-G
• gnomAD v3: 10-71709104-A-G
• gnomAD v4: 10-71709104-A-G
• MyVariant Identifiers: chr10:g.73468861A>G (hg19) ; chr10:g.71709104A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71709104A>G , CM000672.2:g.71709104A>G	GRCh38
NC_000010.10:g.73468861A>G , CM000672.1:g.73468861A>G	GRCh37
NC_000010.9:g.73138867A>G	NCBI36
NG_008835.1:g.317158A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.3113A>G MANE Select	ENSP00000224721.9:p.Asn1038Ser
ENST00000398809.9:c.3113A>G	ENSP00000381789.5:p.Asn1038Ser
ENST00000442677.4:c.3113A>G	ENSP00000388894.3:p.Asn1038Ser
ENST00000466757.8:c.2544A>G
ENST00000224721.10:c.3128A>G	ENSP00000224721.8:p.Asn1043Ser
ENST00000398809.8:c.3113A>G	ENSP00000381789.5:p.Asn1038Ser
ENST00000442677.3:c.1888A>G
ENST00000466757.7:c.2544A>G
ENST00000616684.4:c.3113A>G	ENSP00000482036.2:p.Asn1038Ser
ENST00000622827.4:c.3113A>G	ENSP00000483211.1:p.Asn1038Ser
NM_001171930.1:c.3113A>G	NP_001165401.1:p.Asn1038Ser
NM_022124.5:c.3113A>G	NP_071407.4:p.Asn1038Ser
XM_006717940.2:c.3308A>G	XP_006718003.1:p.Asn1103Ser
XM_006717942.2:c.3242A>G	XP_006718005.1:p.Asn1081Ser
XM_011540039.1:c.3308A>G	XP_011538341.1:p.Asn1103Ser
XM_011540040.1:c.3302A>G	XP_011538342.1:p.Asn1101Ser
XM_011540041.1:c.3248A>G	XP_011538343.1:p.Asn1083Ser
XM_011540042.1:c.3308A>G	XP_011538344.1:p.Asn1103Ser
XM_011540043.1:c.3308A>G	XP_011538345.1:p.Asn1103Ser
XM_011540044.1:c.3173A>G	XP_011538346.1:p.Asn1058Ser
XM_011540045.1:c.3308A>G	XP_011538347.1:p.Asn1103Ser
XM_011540046.1:c.2768A>G	XP_011538348.1:p.Asn923Ser
XM_011540047.1:c.2126A>G	XP_011538349.1:p.Asn709Ser
XM_011540048.1:c.3308A>G	XP_011538350.1:p.Asn1103Ser
XM_011540049.1:c.3308A>G	XP_011538351.1:p.Asn1103Ser
XM_011540050.1:c.3308A>G	XP_011538352.1:p.Asn1103Ser
XM_011540051.1:c.3308A>G	XP_011538353.1:p.Asn1103Ser
XM_011540053.1:c.3308A>G	XP_011538355.1:p.Asn1103Ser
XR_945796.1:n.3551A>G
NM_001171930.2:c.3113A>G	NP_001165401.1:p.Asn1038Ser
NM_022124.6:c.3113A>G MANE Select	NP_071407.4:p.Asn1038Ser