Canonical Allele Identifier: CA367538139

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50495400G>C , CM000669.2:g.50495400G>C GRCh38
NC_000007.13:g.50563098G>C , CM000669.1:g.50563098G>C GRCh37
NC_000007.12:g.50530592G>C NCBI36
NG_008742.1:g.75057C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000444124.7:c.894C>G (DDC) MANE Select ENSP00000403644.2:p.Asn298Lys
ENST00000357936.9:c.894C>G (DDC) ENSP00000350616.5:p.Asn298Lys
ENST00000380984.4:c.894C>G (DDC) ENSP00000370371.4:p.Asn298Lys
ENST00000426377.5:c.660C>G (DDC) ENSP00000395069.1:p.Asn220Lys
ENST00000430300.5:c.536C>G (DDC)
ENST00000431062.5:c.615C>G (DDC) ENSP00000399184.1:p.Asn205Lys
ENST00000444124.6:c.894C>G (DDC) ENSP00000403644.2:p.Asn298Lys
ENST00000444733.5:c.685C>G (DDC) ENSP00000393724.1:p.Leu229Val
ENST00000613602.3:c.-11+47118C>G (FIGNL1) ENSP00000481751.1:n.-11+47118C>G
ENST00000615193.4:c.615C>G (DDC) ENSP00000484104.1:p.Asn205Lys
ENST00000617822.4:c.750C>G (DDC) ENSP00000478385.1:p.Asn250Lys
ENST00000622873.4:c.780C>G (DDC) ENSP00000479110.1:p.Asn260Lys
NM_000790.3:c.894C>G (DDC) NP_000781.1:p.Asn298Lys
NM_001082971.1:c.894C>G (DDC) NP_001076440.1:p.Asn298Lys
NM_001242886.1:c.780C>G (DDC) NP_001229815.1:p.Asn260Lys
NM_001242887.1:c.750C>G (DDC) NP_001229816.1:p.Asn250Lys
NM_001242888.1:c.660C>G (DDC) NP_001229817.1:p.Asn220Lys
NM_001242889.1:c.615C>G (DDC) NP_001229818.1:p.Asn205Lys
NM_001242890.1:c.894C>G (DDC) NP_001229819.1:p.Asn298Lys
XM_005271745.3:c.780C>G (DDC) XP_005271802.1:p.Asn260Lys
XM_011515161.1:c.543C>G (DDC) XP_011513463.1:p.Asn181Lys
XM_005271745.4:c.780C>G (DDC) XP_005271802.1:p.Asn260Lys
XM_011515161.2:c.837C>G (DDC) XP_011513463.2:p.Asn279Lys
NM_001082971.2:c.894C>G (DDC) MANE Select NP_001076440.2:p.Asn298Lys
NM_000790.4:c.894C>G (DDC) NP_000781.2:p.Asn298Lys
NM_001242888.2:c.660C>G (DDC) NP_001229817.2:p.Asn220Lys
NM_001242890.2:c.894C>G (DDC) NP_001229819.2:p.Asn298Lys
NM_001242886.2:c.780C>G (DDC) NP_001229815.2:p.Asn260Lys
NM_001242887.2:c.750C>G (DDC) NP_001229816.2:p.Asn250Lys
NM_001242889.2:c.615C>G (DDC) NP_001229818.2:p.Asn205Lys