Canonical Allele Identifier: CA2167890
Community Standard Title: NM_000751.3(CHRND):c.59G>A (p.Trp20Ter)
Gene: CHRND HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232526535G>A , CM000664.2:g.232526535G>A GRCh38
NC_000002.11:g.233391245G>A , CM000664.1:g.233391245G>A GRCh37
NC_000002.10:g.233099489G>A NCBI36
NG_008028.1:g.5324G>A
NG_031969.1:g.11073G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000751.3:c.59G>A MANE Select NP_000742.1:p.Trp20Ter
ENST00000258385.8:c.59G>A MANE Select ENSP00000258385.3:p.Trp20Ter
NM_000751.2:c.59G>A NP_000742.1:p.Trp20Ter
NM_001256657.1:c.59G>A NP_001243586.1:p.Trp20Ter
NM_001256657.2:c.59G>A NP_001243586.1:p.Trp20Ter
NM_001311195.1:c.-213G>A NP_001298124.1:n.-213G>A
NM_001311195.2:c.-213G>A NP_001298124.1:n.-213G>A
NM_001311196.1:c.-213G>A NP_001298125.1:n.-213G>A
NM_001311196.2:c.-213G>A NP_001298125.1:n.-213G>A
NR_046333.1:c.-4294967181G>A
NR_046334.1:c.-4294967181G>A
ENST00000258385.7:c.59G>A ENSP00000258385.3:p.Trp20Ter
ENST00000412233.5:c.59G>A ENSP00000398143.1:p.Trp20Ter
ENST00000441621.6:c.59G>A ENSP00000408819.2:p.Trp20Ter
ENST00000446616.1:c.59G>A ENSP00000410801.1:p.Trp20Ter
ENST00000449596.5:c.59G>A ENSP00000404950.1:p.Trp20Ter
ENST00000543200.5:c.59G>A ENSP00000438380.1:p.Trp20Ter
XM_011510524.1:c.-213G>A XP_011508826.1:n.-213G>A
XM_011510524.2:c.-213G>A XP_011508826.1:n.-213G>A