Canonical Allele Identifier: CA351005195
Gene: CHRND HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232534063A>G , CM000664.2:g.232534063A>G GRCh38
NC_000002.11:g.233398773A>G , CM000664.1:g.233398773A>G GRCh37
NC_000002.10:g.233107017A>G NCBI36
NG_008028.1:g.12852A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.1180A>G MANE Select ENSP00000258385.3:p.Lys394Glu
ENST00000258385.7:c.1180A>G ENSP00000258385.3:p.Lys394Glu
ENST00000441621.6:c.*362A>G ENSP00000408819.2:n.*362A>G
ENST00000446616.1:c.*821A>G ENSP00000410801.1:n.*821A>G
ENST00000543200.5:c.1135A>G ENSP00000438380.1:p.Lys379Glu
NM_000751.2:c.1180A>G NP_000742.1:p.Lys394Glu
NM_001256657.1:c.1135A>G NP_001243586.1:p.Lys379Glu
NM_001311195.1:c.598A>G NP_001298124.1:p.Lys200Glu
NM_001311196.1:c.877A>G NP_001298125.1:p.Lys293Glu
NR_046333.1:c.-4294966371A>G
NR_046334.1:c.-4294966092A>G
XM_011510524.1:c.799A>G XP_011508826.1:p.Lys267Glu
XM_011510524.2:c.799A>G XP_011508826.1:p.Lys267Glu
NM_000751.3:c.1180A>G MANE Select NP_000742.1:p.Lys394Glu
NM_001311195.2:c.598A>G NP_001298124.1:p.Lys200Glu
NM_001311196.2:c.877A>G NP_001298125.1:p.Lys293Glu
NM_001256657.2:c.1135A>G NP_001243586.1:p.Lys379Glu