Canonical Allele Identifier: CA1335309978
Community Standard Title: NM_000751.3(CHRND):c.236T= (p.Ile79=)
Gene: CHRND HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232527438T= , CM000664.2:g.232527438T= GRCh38
NC_000002.11:g.233392148T= , CM000664.1:g.233392148T= GRCh37
NC_000002.10:g.233100392T= NCBI36
NG_008028.1:g.6227T=
NG_031969.1:g.11976T=

Transcript Alleles

HGVS Amino-acid Change
NM_000751.3:c.236T= MANE Select NP_000742.1:p.Ile79=
ENST00000258385.8:c.236T= MANE Select ENSP00000258385.3:p.Ile79=
NM_000751.2:c.236T= NP_000742.1:p.Ile79=
NM_001256657.1:c.198+764T= NP_001243586.1:n.198+764T=
NM_001256657.2:c.198+764T= NP_001243586.1:n.198+764T=
NM_001311195.1:c.-36T= NP_001298124.1:n.-36T=
NM_001311195.2:c.-36T= NP_001298124.1:n.-36T=
NM_001311196.1:c.-36T= NP_001298125.1:n.-36T=
NM_001311196.2:c.-36T= NP_001298125.1:n.-36T=
NR_046333.1:c.-4294967004T=
NR_046334.1:c.-4294967004T=
ENST00000258385.7:c.236T= ENSP00000258385.3:p.Ile79=
ENST00000412233.5:c.236T= ENSP00000398143.1:p.Ile79=
ENST00000441621.6:c.236T= ENSP00000408819.2:p.Ile79=
ENST00000446616.1:c.236T= ENSP00000410801.1:p.Ile79=
ENST00000449596.5:c.198+764T= ENSP00000404950.1:n.198+764T=
ENST00000543200.5:c.198+764T= ENSP00000438380.1:n.198+764T=
XM_011510524.1:c.-36T= XP_011508826.1:n.-36T=
XM_011510524.2:c.-36T= XP_011508826.1:n.-36T=