Canonical Allele Identifier: CA377130507
Community Standard Title: NM_022124.6(CDH23):c.4829G>T (p.Gly1610Val)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71741905G>T , CM000672.2:g.71741905G>T GRCh38
NC_000010.10:g.73501662G>T , CM000672.1:g.73501662G>T GRCh37
NC_000010.9:g.73171668G>T NCBI36
NG_008835.1:g.349959G>T

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.4829G>T MANE Select NP_071407.4:p.Gly1610Val
ENST00000224721.12:c.4829G>T MANE Select ENSP00000224721.9:p.Gly1610Val
NM_022124.5:c.4829G>T NP_071407.4:p.Gly1610Val
ENST00000224721.10:c.4844G>T ENSP00000224721.8:p.Gly1615Val
ENST00000398792.3:n.1518G>T
ENST00000622827.4:c.4829G>T ENSP00000483211.1:p.Gly1610Val
XM_006717940.2:c.5024G>T XP_006718003.1:p.Gly1675Val
XM_006717942.2:c.4958G>T XP_006718005.1:p.Gly1653Val
XM_011540039.1:c.5021G>T XP_011538341.1:p.Gly1674Val
XM_011540040.1:c.5018G>T XP_011538342.1:p.Gly1673Val
XM_011540041.1:c.4964G>T XP_011538343.1:p.Gly1655Val
XM_011540042.1:c.5024G>T XP_011538344.1:p.Gly1675Val
XM_011540043.1:c.5024G>T XP_011538345.1:p.Gly1675Val
XM_011540044.1:c.4889G>T XP_011538346.1:p.Gly1630Val
XM_011540045.1:c.5024G>T XP_011538347.1:p.Gly1675Val
XM_011540046.1:c.4484G>T XP_011538348.1:p.Gly1495Val
XM_011540047.1:c.3842G>T XP_011538349.1:p.Gly1281Val
XM_011540048.1:c.5024G>T XP_011538350.1:p.Gly1675Val
XM_011540049.1:c.5024G>T XP_011538351.1:p.Gly1675Val
XM_011540050.1:c.5024G>T XP_011538352.1:p.Gly1675Val
XM_011540051.1:c.5024G>T XP_011538353.1:p.Gly1675Val
XM_011540052.1:c.1352G>T XP_011538354.1:p.Gly451Val
XM_011540053.1:c.5024G>T XP_011538355.1:p.Gly1675Val
XR_945796.1:n.5267G>T