Canonical Allele Identifier: CA137494

Gene: CDH23

Linked Data

• ClinVar Variation Id: 45983
• ClinVar RCV Id: RCV000039218 ; RCV000730090 ; RCV001328021
• dbSNP Id: rs200786014
• ExAC: 10:73544650 G / A
• gnomAD v2: 10-73544650-G-A
• gnomAD v3: 10-71784893-G-A
• gnomAD v4: 10-71784893-G-A
• MyVariant Identifiers: chr10:g.73544650G>A (hg19) ; chr10:g.71784893G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71784893G>A , CM000672.2:g.71784893G>A	GRCh38
NC_000010.10:g.73544650G>A , CM000672.1:g.73544650G>A	GRCh37
NC_000010.9:g.73214656G>A	NCBI36
NG_008835.1:g.392947G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.5505G>A MANE Select	ENSP00000224721.9:p.Met1835Ile
ENST00000224721.10:c.5520G>A	ENSP00000224721.8:p.Met1840Ile
ENST00000622827.4:c.5505G>A	ENSP00000483211.1:p.Met1835Ile
NM_022124.5:c.5505G>A	NP_071407.4:p.Met1835Ile
XM_006717940.2:c.5700G>A	XP_006718003.1:p.Met1900Ile
XM_006717942.2:c.5634G>A	XP_006718005.1:p.Met1878Ile
XM_011540039.1:c.5697G>A	XP_011538341.1:p.Met1899Ile
XM_011540040.1:c.5694G>A	XP_011538342.1:p.Met1898Ile
XM_011540041.1:c.5640G>A	XP_011538343.1:p.Met1880Ile
XM_011540042.1:c.5700G>A	XP_011538344.1:p.Met1900Ile
XM_011540043.1:c.5700G>A	XP_011538345.1:p.Met1900Ile
XM_011540044.1:c.5565G>A	XP_011538346.1:p.Met1855Ile
XM_011540045.1:c.5700G>A	XP_011538347.1:p.Met1900Ile
XM_011540046.1:c.5160G>A	XP_011538348.1:p.Met1720Ile
XM_011540047.1:c.4518G>A	XP_011538349.1:p.Met1506Ile
XM_011540048.1:c.5700G>A	XP_011538350.1:p.Met1900Ile
XM_011540049.1:c.5700G>A	XP_011538351.1:p.Met1900Ile
XM_011540050.1:c.5700G>A	XP_011538352.1:p.Met1900Ile
XM_011540051.1:c.5700G>A	XP_011538353.1:p.Met1900Ile
XM_011540052.1:c.2028G>A	XP_011538354.1:p.Met676Ile
XM_011540053.1:c.5700G>A	XP_011538355.1:p.Met1900Ile
XR_945796.1:n.5943G>A
NM_022124.6:c.5505G>A MANE Select	NP_071407.4:p.Met1835Ile