Canonical Allele Identifier: CA1335313977
Gene: CHRND HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232534025T= , CM000664.2:g.232534025T= GRCh38
NC_000002.11:g.233398735T= , CM000664.1:g.233398735T= GRCh37
NC_000002.10:g.233106979T= NCBI36
NG_008028.1:g.12814T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.1142T= MANE Select ENSP00000258385.3:p.Leu381=
ENST00000258385.7:c.1142T= ENSP00000258385.3:p.Leu381=
ENST00000441621.6:c.*324T= ENSP00000408819.2:n.*324T=
ENST00000446616.1:c.*783T= ENSP00000410801.1:n.*783T=
ENST00000543200.5:c.1097T= ENSP00000438380.1:p.Leu366=
NM_000751.2:c.1142T= NP_000742.1:p.Leu381=
NM_001256657.1:c.1097T= NP_001243586.1:p.Leu366=
NM_001311195.1:c.560T= NP_001298124.1:p.Leu187=
NM_001311196.1:c.839T= NP_001298125.1:p.Leu280=
NR_046333.1:c.-4294966409T=
NR_046334.1:c.-4294966130T=
XM_011510524.1:c.761T= XP_011508826.1:p.Leu254=
XM_011510524.2:c.761T= XP_011508826.1:p.Leu254=
NM_000751.3:c.1142T= MANE Select NP_000742.1:p.Leu381=
NM_001311195.2:c.560T= NP_001298124.1:p.Leu187=
NM_001311196.2:c.839T= NP_001298125.1:p.Leu280=
NM_001256657.2:c.1097T= NP_001243586.1:p.Leu366=