Canonical Allele Identifier: CA1335314080
Gene: CHRND HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232534251C= , CM000664.2:g.232534251C= GRCh38
NC_000002.11:g.233398961C= , CM000664.1:g.233398961C= GRCh37
NC_000002.10:g.233107205C= NCBI36
NG_008028.1:g.13040C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.1280C= MANE Select ENSP00000258385.3:p.Ala427=
ENST00000258385.7:c.1280C= ENSP00000258385.3:p.Ala427=
ENST00000441621.6:c.*462C= ENSP00000408819.2:n.*462C=
ENST00000446616.1:c.*921C= ENSP00000410801.1:n.*921C=
ENST00000543200.5:c.1235C= ENSP00000438380.1:p.Ala412=
NM_000751.2:c.1280C= NP_000742.1:p.Ala427=
NM_001256657.1:c.1235C= NP_001243586.1:p.Ala412=
NM_001311195.1:c.698C= NP_001298124.1:p.Ala233=
NM_001311196.1:c.977C= NP_001298125.1:p.Ala326=
NR_046333.1:c.-4294966271C=
NR_046334.1:c.-4294965992C=
XM_011510524.1:c.899C= XP_011508826.1:p.Ala300=
XM_011510524.2:c.899C= XP_011508826.1:p.Ala300=
NM_000751.3:c.1280C= MANE Select NP_000742.1:p.Ala427=
NM_001311195.2:c.698C= NP_001298124.1:p.Ala233=
NM_001311196.2:c.977C= NP_001298125.1:p.Ala326=
NM_001256657.2:c.1235C= NP_001243586.1:p.Ala412=