Canonical Allele Identifier: CA351005885
Gene: CHRND HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232535132G>C , CM000664.2:g.232535132G>C GRCh38
NC_000002.11:g.233399842G>C , CM000664.1:g.233399842G>C GRCh37
NC_000002.10:g.233108086G>C NCBI36
NG_008028.1:g.13921G>C
NG_012954.1:g.406G>C
NG_012954.2:g.441G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000258385.8:c.1374G>C MANE Select ENSP00000258385.3:p.Glu458Asp
ENST00000258385.7:c.1374G>C ENSP00000258385.3:p.Glu458Asp
ENST00000441621.6:c.*556G>C ENSP00000408819.2:n.*556G>C
ENST00000446616.1:c.*1015G>C ENSP00000410801.1:n.*1015G>C
ENST00000543200.5:c.1329G>C ENSP00000438380.1:p.Glu443Asp
NM_000751.2:c.1374G>C NP_000742.1:p.Glu458Asp
NM_001256657.1:c.1329G>C NP_001243586.1:p.Glu443Asp
NM_001311195.1:c.792G>C NP_001298124.1:p.Glu264Asp
NM_001311196.1:c.1071G>C NP_001298125.1:p.Glu357Asp
NR_046333.1:c.-4294966177G>C
NR_046334.1:c.-4294965898G>C
XM_011510524.1:c.993G>C XP_011508826.1:p.Glu331Asp
XM_011510524.2:c.993G>C XP_011508826.1:p.Glu331Asp
NM_000751.3:c.1374G>C MANE Select NP_000742.1:p.Glu458Asp
NM_001311195.2:c.792G>C NP_001298124.1:p.Glu264Asp
NM_001311196.2:c.1071G>C NP_001298125.1:p.Glu357Asp
NM_001256657.2:c.1329G>C NP_001243586.1:p.Glu443Asp