Canonical Allele Identifier: CA1335314471
Community Standard Title: NM_000751.3(CHRND):c.1390C= (p.Arg464=)
Gene: CHRND HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232535148C= , CM000664.2:g.232535148C= GRCh38
NC_000002.11:g.233399858C= , CM000664.1:g.233399858C= GRCh37
NC_000002.10:g.233108102C= NCBI36
NG_008028.1:g.13937C=
NG_012954.1:g.422C=
NG_012954.2:g.457C=

Transcript Alleles

HGVS Amino-acid Change
NM_000751.3:c.1390C= MANE Select NP_000742.1:p.Arg464=
ENST00000258385.8:c.1390C= MANE Select ENSP00000258385.3:p.Arg464=
NM_000751.2:c.1390C= NP_000742.1:p.Arg464=
NM_001256657.1:c.1345C= NP_001243586.1:p.Arg449=
NM_001256657.2:c.1345C= NP_001243586.1:p.Arg449=
NM_001311195.1:c.808C= NP_001298124.1:p.Arg270=
NM_001311195.2:c.808C= NP_001298124.1:p.Arg270=
NM_001311196.1:c.1087C= NP_001298125.1:p.Arg363=
NM_001311196.2:c.1087C= NP_001298125.1:p.Arg363=
NR_046333.1:c.-4294966161C=
NR_046334.1:c.-4294965882C=
ENST00000258385.7:c.1390C= ENSP00000258385.3:p.Arg464=
ENST00000441621.6:c.*572C= ENSP00000408819.2:n.*572C=
ENST00000446616.1:c.*1031C= ENSP00000410801.1:n.*1031C=
ENST00000543200.5:c.1345C= ENSP00000438380.1:p.Arg449=
XM_011510524.1:c.1009C= XP_011508826.1:p.Arg337=
XM_011510524.2:c.1009C= XP_011508826.1:p.Arg337=