Canonical Allele Identifier: CA351005800
Gene: CHRND HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232534316A>G , CM000664.2:g.232534316A>G GRCh38
NC_000002.11:g.233399026A>G , CM000664.1:g.233399026A>G GRCh37
NC_000002.10:g.233107270A>G NCBI36
NG_008028.1:g.13105A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.1345A>G MANE Select ENSP00000258385.3:p.Met449Val
ENST00000258385.7:c.1345A>G ENSP00000258385.3:p.Met449Val
ENST00000441621.6:c.*527A>G ENSP00000408819.2:n.*527A>G
ENST00000446616.1:c.*986A>G ENSP00000410801.1:n.*986A>G
ENST00000543200.5:c.1300A>G ENSP00000438380.1:p.Met434Val
NM_000751.2:c.1345A>G NP_000742.1:p.Met449Val
NM_001256657.1:c.1300A>G NP_001243586.1:p.Met434Val
NM_001311195.1:c.763A>G NP_001298124.1:p.Met255Val
NM_001311196.1:c.1042A>G NP_001298125.1:p.Met348Val
NR_046333.1:c.-4294966206A>G
NR_046334.1:c.-4294965927A>G
XM_011510524.1:c.964A>G XP_011508826.1:p.Met322Val
XM_011510524.2:c.964A>G XP_011508826.1:p.Met322Val
NM_000751.3:c.1345A>G MANE Select NP_000742.1:p.Met449Val
NM_001311195.2:c.763A>G NP_001298124.1:p.Met255Val
NM_001311196.2:c.1042A>G NP_001298125.1:p.Met348Val
NM_001256657.2:c.1300A>G NP_001243586.1:p.Met434Val