Canonical Allele Identifier: CA377160732

Gene: CDH23

Linked Data

• MyVariant Identifiers: chr10:g.73500683T>G (hg19) ; chr10:g.71740926T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71740926T>G , CM000672.2:g.71740926T>G	GRCh38
NC_000010.10:g.73500683T>G , CM000672.1:g.73500683T>G	GRCh37
NC_000010.9:g.73170689T>G	NCBI36
NG_008835.1:g.348980T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.4593T>G MANE Select	ENSP00000224721.9:p.Phe1531Leu
ENST00000224721.10:c.4608T>G	ENSP00000224721.8:p.Phe1536Leu
ENST00000398792.3:n.1282T>G
ENST00000622827.4:c.4593T>G	ENSP00000483211.1:p.Phe1531Leu
NM_022124.5:c.4593T>G	NP_071407.4:p.Phe1531Leu
XM_006717940.2:c.4788T>G	XP_006718003.1:p.Phe1596Leu
XM_006717942.2:c.4722T>G	XP_006718005.1:p.Phe1574Leu
XM_011540039.1:c.4785T>G	XP_011538341.1:p.Phe1595Leu
XM_011540040.1:c.4782T>G	XP_011538342.1:p.Phe1594Leu
XM_011540041.1:c.4728T>G	XP_011538343.1:p.Phe1576Leu
XM_011540042.1:c.4788T>G	XP_011538344.1:p.Phe1596Leu
XM_011540043.1:c.4788T>G	XP_011538345.1:p.Phe1596Leu
XM_011540044.1:c.4653T>G	XP_011538346.1:p.Phe1551Leu
XM_011540045.1:c.4788T>G	XP_011538347.1:p.Phe1596Leu
XM_011540046.1:c.4248T>G	XP_011538348.1:p.Phe1416Leu
XM_011540047.1:c.3606T>G	XP_011538349.1:p.Phe1202Leu
XM_011540048.1:c.4788T>G	XP_011538350.1:p.Phe1596Leu
XM_011540049.1:c.4788T>G	XP_011538351.1:p.Phe1596Leu
XM_011540050.1:c.4788T>G	XP_011538352.1:p.Phe1596Leu
XM_011540051.1:c.4788T>G	XP_011538353.1:p.Phe1596Leu
XM_011540052.1:c.1116T>G	XP_011538354.1:p.Phe372Leu
XM_011540053.1:c.4788T>G	XP_011538355.1:p.Phe1596Leu
XR_945796.1:n.5031T>G
NM_022124.6:c.4593T>G MANE Select	NP_071407.4:p.Phe1531Leu