Canonical Allele Identifier: CA2168273
Gene: CHRND HGNC NCBI

Linked Data

dbSNP Id: rs749866545

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232534010G>C , CM000664.2:g.232534010G>C GRCh38
NC_000002.11:g.233398720G>C , CM000664.1:g.233398720G>C GRCh37
NC_000002.10:g.233106964G>C NCBI36
NG_008028.1:g.12799G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.1127G>C MANE Select ENSP00000258385.3:p.Arg376Pro
ENST00000258385.7:c.1127G>C ENSP00000258385.3:p.Arg376Pro
ENST00000441621.6:c.*309G>C ENSP00000408819.2:n.*309G>C
ENST00000446616.1:c.*768G>C ENSP00000410801.1:n.*768G>C
ENST00000543200.5:c.1082G>C ENSP00000438380.1:p.Arg361Pro
NM_000751.2:c.1127G>C NP_000742.1:p.Arg376Pro
NM_001256657.1:c.1082G>C NP_001243586.1:p.Arg361Pro
NM_001311195.1:c.545G>C NP_001298124.1:p.Arg182Pro
NM_001311196.1:c.824G>C NP_001298125.1:p.Arg275Pro
NR_046333.1:c.-4294966424G>C
NR_046334.1:c.-4294966145G>C
XM_011510524.1:c.746G>C XP_011508826.1:p.Arg249Pro
XM_011510524.2:c.746G>C XP_011508826.1:p.Arg249Pro
NM_000751.3:c.1127G>C MANE Select NP_000742.1:p.Arg376Pro
NM_001311195.2:c.545G>C NP_001298124.1:p.Arg182Pro
NM_001311196.2:c.824G>C NP_001298125.1:p.Arg275Pro
NM_001256657.2:c.1082G>C NP_001243586.1:p.Arg361Pro