Canonical Allele Identifier: CA1335314085
Gene: CHRND HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232534263T= , CM000664.2:g.232534263T= GRCh38
NC_000002.11:g.233398973T= , CM000664.1:g.233398973T= GRCh37
NC_000002.10:g.233107217T= NCBI36
NG_008028.1:g.13052T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.1292T= MANE Select ENSP00000258385.3:p.Leu431=
ENST00000258385.7:c.1292T= ENSP00000258385.3:p.Leu431=
ENST00000441621.6:c.*474T= ENSP00000408819.2:n.*474T=
ENST00000446616.1:c.*933T= ENSP00000410801.1:n.*933T=
ENST00000543200.5:c.1247T= ENSP00000438380.1:p.Leu416=
NM_000751.2:c.1292T= NP_000742.1:p.Leu431=
NM_001256657.1:c.1247T= NP_001243586.1:p.Leu416=
NM_001311195.1:c.710T= NP_001298124.1:p.Leu237=
NM_001311196.1:c.989T= NP_001298125.1:p.Leu330=
NR_046333.1:c.-4294966259T=
NR_046334.1:c.-4294965980T=
XM_011510524.1:c.911T= XP_011508826.1:p.Leu304=
XM_011510524.2:c.911T= XP_011508826.1:p.Leu304=
NM_000751.3:c.1292T= MANE Select NP_000742.1:p.Leu431=
NM_001311195.2:c.710T= NP_001298124.1:p.Leu237=
NM_001311196.2:c.989T= NP_001298125.1:p.Leu330=
NM_001256657.2:c.1247T= NP_001243586.1:p.Leu416=