Canonical Allele Identifier: CA351005164
Gene: CHRND HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232534049A>T , CM000664.2:g.232534049A>T GRCh38
NC_000002.11:g.233398759A>T , CM000664.1:g.233398759A>T GRCh37
NC_000002.10:g.233107003A>T NCBI36
NG_008028.1:g.12838A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.1166A>T MANE Select ENSP00000258385.3:p.Glu389Val
ENST00000258385.7:c.1166A>T ENSP00000258385.3:p.Glu389Val
ENST00000441621.6:c.*348A>T ENSP00000408819.2:n.*348A>T
ENST00000446616.1:c.*807A>T ENSP00000410801.1:n.*807A>T
ENST00000543200.5:c.1121A>T ENSP00000438380.1:p.Glu374Val
NM_000751.2:c.1166A>T NP_000742.1:p.Glu389Val
NM_001256657.1:c.1121A>T NP_001243586.1:p.Glu374Val
NM_001311195.1:c.584A>T NP_001298124.1:p.Glu195Val
NM_001311196.1:c.863A>T NP_001298125.1:p.Glu288Val
NR_046333.1:c.-4294966385A>T
NR_046334.1:c.-4294966106A>T
XM_011510524.1:c.785A>T XP_011508826.1:p.Glu262Val
XM_011510524.2:c.785A>T XP_011508826.1:p.Glu262Val
NM_000751.3:c.1166A>T MANE Select NP_000742.1:p.Glu389Val
NM_001311195.2:c.584A>T NP_001298124.1:p.Glu195Val
NM_001311196.2:c.863A>T NP_001298125.1:p.Glu288Val
NM_001256657.2:c.1121A>T NP_001243586.1:p.Glu374Val