Canonical Allele Identifier: CA377129882
Community Standard Title: NM_022124.6(CDH23):c.4662C>G (p.Asp1554Glu)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71741738C>G , CM000672.2:g.71741738C>G GRCh38
NC_000010.10:g.73501495C>G , CM000672.1:g.73501495C>G GRCh37
NC_000010.9:g.73171501C>G NCBI36
NG_008835.1:g.349792C>G

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.4662C>G MANE Select NP_071407.4:p.Asp1554Glu
ENST00000224721.12:c.4662C>G MANE Select ENSP00000224721.9:p.Asp1554Glu
NM_022124.5:c.4662C>G NP_071407.4:p.Asp1554Glu
ENST00000224721.10:c.4677C>G ENSP00000224721.8:p.Asp1559Glu
ENST00000398792.3:n.1351C>G
ENST00000622827.4:c.4662C>G ENSP00000483211.1:p.Asp1554Glu
XM_006717940.2:c.4857C>G XP_006718003.1:p.Asp1619Glu
XM_006717942.2:c.4791C>G XP_006718005.1:p.Asp1597Glu
XM_011540039.1:c.4854C>G XP_011538341.1:p.Asp1618Glu
XM_011540040.1:c.4851C>G XP_011538342.1:p.Asp1617Glu
XM_011540041.1:c.4797C>G XP_011538343.1:p.Asp1599Glu
XM_011540042.1:c.4857C>G XP_011538344.1:p.Asp1619Glu
XM_011540043.1:c.4857C>G XP_011538345.1:p.Asp1619Glu
XM_011540044.1:c.4722C>G XP_011538346.1:p.Asp1574Glu
XM_011540045.1:c.4857C>G XP_011538347.1:p.Asp1619Glu
XM_011540046.1:c.4317C>G XP_011538348.1:p.Asp1439Glu
XM_011540047.1:c.3675C>G XP_011538349.1:p.Asp1225Glu
XM_011540048.1:c.4857C>G XP_011538350.1:p.Asp1619Glu
XM_011540049.1:c.4857C>G XP_011538351.1:p.Asp1619Glu
XM_011540050.1:c.4857C>G XP_011538352.1:p.Asp1619Glu
XM_011540051.1:c.4857C>G XP_011538353.1:p.Asp1619Glu
XM_011540052.1:c.1185C>G XP_011538354.1:p.Asp395Glu
XM_011540053.1:c.4857C>G XP_011538355.1:p.Asp1619Glu
XR_945796.1:n.5100C>G