Canonical Allele Identifier: CA1335314114
Gene: CHRND HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232534352C= , CM000664.2:g.232534352C= GRCh38
NC_000002.11:g.233399062C= , CM000664.1:g.233399062C= GRCh37
NC_000002.10:g.233107306C= NCBI36
NG_008028.1:g.13141C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.1371+10C= MANE Select ENSP00000258385.3:n.1371+10C=
ENST00000258385.7:c.1371+10C= ENSP00000258385.3:n.1371+10C=
ENST00000441621.6:c.*553+10C= ENSP00000408819.2:n.*553+10C=
ENST00000446616.1:c.*1012+10C= ENSP00000410801.1:n.*1012+10C=
ENST00000543200.5:c.1326+10C= ENSP00000438380.1:n.1326+10C=
NM_000751.2:c.1371+10C= NP_000742.1:n.1371+10C=
NM_001256657.1:c.1326+10C= NP_001243586.1:n.1326+10C=
NM_001311195.1:c.789+10C= NP_001298124.1:n.789+10C=
NM_001311196.1:c.1068+10C= NP_001298125.1:n.1068+10C=
NR_046333.1:c.-4294966180+10C=
NR_046334.1:c.-4294965901+10C=
XM_011510524.1:c.990+10C= XP_011508826.1:n.990+10C=
XM_011510524.2:c.990+10C= XP_011508826.1:n.990+10C=
NM_000751.3:c.1371+10C= MANE Select NP_000742.1:n.1371+10C=
NM_001311195.2:c.789+10C= NP_001298124.1:n.789+10C=
NM_001311196.2:c.1068+10C= NP_001298125.1:n.1068+10C=
NM_001256657.2:c.1326+10C= NP_001243586.1:n.1326+10C=