Canonical Allele Identifier: CA1335309582
Community Standard Title: NM_000751.3(CHRND):c.188T= (p.Leu63=)
Gene: CHRND HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232526664T= , CM000664.2:g.232526664T= GRCh38
NC_000002.11:g.233391374T= , CM000664.1:g.233391374T= GRCh37
NC_000002.10:g.233099618T= NCBI36
NG_008028.1:g.5453T=
NG_031969.1:g.11202T=

Transcript Alleles

HGVS Amino-acid Change
NM_000751.3:c.188T= MANE Select NP_000742.1:p.Leu63=
ENST00000258385.8:c.188T= MANE Select ENSP00000258385.3:p.Leu63=
NM_000751.2:c.188T= NP_000742.1:p.Leu63=
NM_001256657.1:c.188T= NP_001243586.1:p.Leu63=
NM_001256657.2:c.188T= NP_001243586.1:p.Leu63=
NM_001311195.1:c.-84T= NP_001298124.1:n.-84T=
NM_001311195.2:c.-84T= NP_001298124.1:n.-84T=
NM_001311196.1:c.-84T= NP_001298125.1:n.-84T=
NM_001311196.2:c.-84T= NP_001298125.1:n.-84T=
NR_046333.1:c.-4294967052T=
NR_046334.1:c.-4294967052T=
ENST00000258385.7:c.188T= ENSP00000258385.3:p.Leu63=
ENST00000412233.5:c.188T= ENSP00000398143.1:p.Leu63=
ENST00000441621.6:c.188T= ENSP00000408819.2:p.Leu63=
ENST00000446616.1:c.188T= ENSP00000410801.1:p.Leu63=
ENST00000449596.5:c.188T= ENSP00000404950.1:p.Leu63=
ENST00000543200.5:c.188T= ENSP00000438380.1:p.Leu63=
XM_011510524.1:c.-84T= XP_011508826.1:n.-84T=
XM_011510524.2:c.-84T= XP_011508826.1:n.-84T=