Canonical Allele Identifier: CA377149862
Community Standard Title: NM_022124.6(CDH23):c.5908G>A (p.Glu1970Lys)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71789027G>A , CM000672.2:g.71789027G>A GRCh38
NC_000010.10:g.73548784G>A , CM000672.1:g.73548784G>A GRCh37
NC_000010.9:g.73218790G>A NCBI36
NG_008835.1:g.397081G>A

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.5908G>A MANE Select NP_071407.4:p.Glu1970Lys
ENST00000224721.12:c.5908G>A MANE Select ENSP00000224721.9:p.Glu1970Lys
NM_022124.5:c.5908G>A NP_071407.4:p.Glu1970Lys
ENST00000224721.10:c.5923G>A ENSP00000224721.8:p.Glu1975Lys
ENST00000622827.4:c.5908G>A ENSP00000483211.1:p.Glu1970Lys
XM_006717940.2:c.6103G>A XP_006718003.1:p.Glu2035Lys
XM_006717942.2:c.6037G>A XP_006718005.1:p.Glu2013Lys
XM_011540039.1:c.6100G>A XP_011538341.1:p.Glu2034Lys
XM_011540040.1:c.6097G>A XP_011538342.1:p.Glu2033Lys
XM_011540041.1:c.6043G>A XP_011538343.1:p.Glu2015Lys
XM_011540042.1:c.6103G>A XP_011538344.1:p.Glu2035Lys
XM_011540043.1:c.6103G>A XP_011538345.1:p.Glu2035Lys
XM_011540044.1:c.5968G>A XP_011538346.1:p.Glu1990Lys
XM_011540045.1:c.6103G>A XP_011538347.1:p.Glu2035Lys
XM_011540046.1:c.5563G>A XP_011538348.1:p.Glu1855Lys
XM_011540047.1:c.4921G>A XP_011538349.1:p.Glu1641Lys
XM_011540048.1:c.6103G>A XP_011538350.1:p.Glu2035Lys
XM_011540049.1:c.6103G>A XP_011538351.1:p.Glu2035Lys
XM_011540050.1:c.6103G>A XP_011538352.1:p.Glu2035Lys
XM_011540051.1:c.6103G>A XP_011538353.1:p.Glu2035Lys
XM_011540052.1:c.2431G>A XP_011538354.1:p.Glu811Lys
XM_011540053.1:c.6103G>A XP_011538355.1:p.Glu2035Lys
XR_945796.1:n.6346G>A