Canonical Allele Identifier: CA367538054

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50495364G>C , CM000669.2:g.50495364G>C GRCh38
NC_000007.13:g.50563062G>C , CM000669.1:g.50563062G>C GRCh37
NC_000007.12:g.50530556G>C NCBI36
NG_008742.1:g.75093C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000444124.7:c.930C>G (DDC) MANE Select ENSP00000403644.2:p.Asp310Glu
ENST00000357936.9:c.930C>G (DDC) ENSP00000350616.5:p.Asp310Glu
ENST00000380984.4:c.930C>G (DDC) ENSP00000370371.4:p.Asp310Glu
ENST00000426377.5:c.696C>G (DDC) ENSP00000395069.1:p.Asp232Glu
ENST00000430300.5:c.572C>G (DDC)
ENST00000431062.5:c.651C>G (DDC) ENSP00000399184.1:p.Asp217Glu
ENST00000444124.6:c.930C>G (DDC) ENSP00000403644.2:p.Asp310Glu
ENST00000444733.5:c.*31C>G (DDC) ENSP00000393724.1:n.*31C>G
ENST00000613602.3:c.-11+47154C>G (FIGNL1) ENSP00000481751.1:n.-11+47154C>G
ENST00000615193.4:c.651C>G (DDC) ENSP00000484104.1:p.Asp217Glu
ENST00000617822.4:c.786C>G (DDC) ENSP00000478385.1:p.Asp262Glu
ENST00000622873.4:c.816C>G (DDC) ENSP00000479110.1:p.Asp272Glu
NM_000790.3:c.930C>G (DDC) NP_000781.1:p.Asp310Glu
NM_001082971.1:c.930C>G (DDC) NP_001076440.1:p.Asp310Glu
NM_001242886.1:c.816C>G (DDC) NP_001229815.1:p.Asp272Glu
NM_001242887.1:c.786C>G (DDC) NP_001229816.1:p.Asp262Glu
NM_001242888.1:c.696C>G (DDC) NP_001229817.1:p.Asp232Glu
NM_001242889.1:c.651C>G (DDC) NP_001229818.1:p.Asp217Glu
NM_001242890.1:c.930C>G (DDC) NP_001229819.1:p.Asp310Glu
XM_005271745.3:c.816C>G (DDC) XP_005271802.1:p.Asp272Glu
XM_011515161.1:c.579C>G (DDC) XP_011513463.1:p.Asp193Glu
XM_005271745.4:c.816C>G (DDC) XP_005271802.1:p.Asp272Glu
XM_011515161.2:c.873C>G (DDC) XP_011513463.2:p.Asp291Glu
NM_001082971.2:c.930C>G (DDC) MANE Select NP_001076440.2:p.Asp310Glu
NM_000790.4:c.930C>G (DDC) NP_000781.2:p.Asp310Glu
NM_001242888.2:c.696C>G (DDC) NP_001229817.2:p.Asp232Glu
NM_001242890.2:c.930C>G (DDC) NP_001229819.2:p.Asp310Glu
NM_001242886.2:c.816C>G (DDC) NP_001229815.2:p.Asp272Glu
NM_001242887.2:c.786C>G (DDC) NP_001229816.2:p.Asp262Glu
NM_001242889.2:c.651C>G (DDC) NP_001229818.2:p.Asp217Glu