Canonical Allele Identifier: CA351005462
Gene: CHRND HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232534239G>C , CM000664.2:g.232534239G>C GRCh38
NC_000002.11:g.233398949G>C , CM000664.1:g.233398949G>C GRCh37
NC_000002.10:g.233107193G>C NCBI36
NG_008028.1:g.13028G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.1268G>C MANE Select ENSP00000258385.3:p.Ser423Thr
ENST00000258385.7:c.1268G>C ENSP00000258385.3:p.Ser423Thr
ENST00000441621.6:c.*450G>C ENSP00000408819.2:n.*450G>C
ENST00000446616.1:c.*909G>C ENSP00000410801.1:n.*909G>C
ENST00000543200.5:c.1223G>C ENSP00000438380.1:p.Ser408Thr
NM_000751.2:c.1268G>C NP_000742.1:p.Ser423Thr
NM_001256657.1:c.1223G>C NP_001243586.1:p.Ser408Thr
NM_001311195.1:c.686G>C NP_001298124.1:p.Ser229Thr
NM_001311196.1:c.965G>C NP_001298125.1:p.Ser322Thr
NR_046333.1:c.-4294966283G>C
NR_046334.1:c.-4294966004G>C
XM_011510524.1:c.887G>C XP_011508826.1:p.Ser296Thr
XM_011510524.2:c.887G>C XP_011508826.1:p.Ser296Thr
NM_000751.3:c.1268G>C MANE Select NP_000742.1:p.Ser423Thr
NM_001311195.2:c.686G>C NP_001298124.1:p.Ser229Thr
NM_001311196.2:c.965G>C NP_001298125.1:p.Ser322Thr
NM_001256657.2:c.1223G>C NP_001243586.1:p.Ser408Thr