Canonical Allele Identifier: CA209458142
Community Standard Title: NM_022124.6(CDH23):c.5721C>A (p.Ile1907=)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71785639C>A , CM000672.2:g.71785639C>A GRCh38
NC_000010.10:g.73545396C>A , CM000672.1:g.73545396C>A GRCh37
NC_000010.9:g.73215402C>A NCBI36
NG_008835.1:g.393693C>A

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.5721C>A MANE Select NP_071407.4:p.Ile1907=
ENST00000224721.12:c.5721C>A MANE Select ENSP00000224721.9:p.Ile1907=
NM_022124.5:c.5721C>A NP_071407.4:p.Ile1907=
ENST00000224721.10:c.5736C>A ENSP00000224721.8:p.Ile1912=
ENST00000622827.4:c.5721C>A ENSP00000483211.1:p.Ile1907=
XM_006717940.2:c.5916C>A XP_006718003.1:p.Ile1972=
XM_006717942.2:c.5850C>A XP_006718005.1:p.Ile1950=
XM_011540039.1:c.5913C>A XP_011538341.1:p.Ile1971=
XM_011540040.1:c.5910C>A XP_011538342.1:p.Ile1970=
XM_011540041.1:c.5856C>A XP_011538343.1:p.Ile1952=
XM_011540042.1:c.5916C>A XP_011538344.1:p.Ile1972=
XM_011540043.1:c.5916C>A XP_011538345.1:p.Ile1972=
XM_011540044.1:c.5781C>A XP_011538346.1:p.Ile1927=
XM_011540045.1:c.5916C>A XP_011538347.1:p.Ile1972=
XM_011540046.1:c.5376C>A XP_011538348.1:p.Ile1792=
XM_011540047.1:c.4734C>A XP_011538349.1:p.Ile1578=
XM_011540048.1:c.5916C>A XP_011538350.1:p.Ile1972=
XM_011540049.1:c.5916C>A XP_011538351.1:p.Ile1972=
XM_011540050.1:c.5916C>A XP_011538352.1:p.Ile1972=
XM_011540051.1:c.5916C>A XP_011538353.1:p.Ile1972=
XM_011540052.1:c.2244C>A XP_011538354.1:p.Ile748=
XM_011540053.1:c.5916C>A XP_011538355.1:p.Ile1972=
XR_945796.1:n.6159C>A