Canonical Allele Identifier: CA1335314098
Gene: CHRND HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232534301T= , CM000664.2:g.232534301T= GRCh38
NC_000002.11:g.233399011T= , CM000664.1:g.233399011T= GRCh37
NC_000002.10:g.233107255T= NCBI36
NG_008028.1:g.13090T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.1330T= MANE Select ENSP00000258385.3:p.Phe444=
ENST00000258385.7:c.1330T= ENSP00000258385.3:p.Phe444=
ENST00000441621.6:c.*512T= ENSP00000408819.2:n.*512T=
ENST00000446616.1:c.*971T= ENSP00000410801.1:n.*971T=
ENST00000543200.5:c.1285T= ENSP00000438380.1:p.Phe429=
NM_000751.2:c.1330T= NP_000742.1:p.Phe444=
NM_001256657.1:c.1285T= NP_001243586.1:p.Phe429=
NM_001311195.1:c.748T= NP_001298124.1:p.Phe250=
NM_001311196.1:c.1027T= NP_001298125.1:p.Phe343=
NR_046333.1:c.-4294966221T=
NR_046334.1:c.-4294965942T=
XM_011510524.1:c.949T= XP_011508826.1:p.Phe317=
XM_011510524.2:c.949T= XP_011508826.1:p.Phe317=
NM_000751.3:c.1330T= MANE Select NP_000742.1:p.Phe444=
NM_001311195.2:c.748T= NP_001298124.1:p.Phe250=
NM_001311196.2:c.1027T= NP_001298125.1:p.Phe343=
NM_001256657.2:c.1285T= NP_001243586.1:p.Phe429=