Canonical Allele Identifier: CA66959554
Community Standard Title: NM_000751.3(CHRND):c.*908A>G
Gene: CHRND HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232536220A>G , CM000664.2:g.232536220A>G GRCh38
NC_000002.11:g.233400930A>G , CM000664.1:g.233400930A>G GRCh37
NC_000002.10:g.233109174A>G NCBI36
NG_008028.1:g.15009A>G
NG_012954.1:g.1494A>G
NG_012954.2:g.1529A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000751.3:c.*908A>G MANE Select NP_000742.1:n.*908A>G
ENST00000258385.8:c.*908A>G MANE Select ENSP00000258385.3:n.*908A>G
NM_000751.2:c.*908A>G NP_000742.1:n.*908A>G
NM_001256657.1:c.*908A>G NP_001243586.1:n.*908A>G
NM_001256657.2:c.*908A>G NP_001243586.1:n.*908A>G
NM_001311195.1:c.*908A>G NP_001298124.1:n.*908A>G
NM_001311195.2:c.*908A>G NP_001298124.1:n.*908A>G
NM_001311196.1:c.*908A>G NP_001298125.1:n.*908A>G
NM_001311196.2:c.*908A>G NP_001298125.1:n.*908A>G
NR_046333.1:c.-4294965089A>G
NR_046334.1:c.-4294964810A>G
ENST00000441621.6:c.*1644A>G ENSP00000408819.2:n.*1644A>G
ENST00000543200.5:c.*908A>G ENSP00000438380.1:n.*908A>G
XM_011510524.1:c.*908A>G XP_011508826.1:n.*908A>G
XM_011510524.2:c.*908A>G XP_011508826.1:n.*908A>G