Canonical Allele Identifier: CA1139660067
Community Standard Title: NM_001082971.2(DDC):c.316-5G>C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50537984C>G , CM000669.2:g.50537984C>G GRCh38
NC_000007.13:g.50605682C>G , CM000669.1:g.50605682C>G GRCh37
NC_000007.12:g.50573176C>G NCBI36
NG_008742.1:g.32473G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001082971.2:c.316-5G>C (DDC) MANE Select NP_001076440.2:n.316-5G>C
ENST00000444124.7:c.316-5G>C (DDC) MANE Select ENSP00000403644.2:n.316-5G>C
NM_000790.3:c.316-5G>C (DDC) NP_000781.1:n.316-5G>C
NM_000790.4:c.316-5G>C (DDC) NP_000781.2:n.316-5G>C
NM_001082971.1:c.316-5G>C (DDC) NP_001076440.1:n.316-5G>C
NM_001242886.1:c.202-5G>C (DDC) NP_001229815.1:n.202-5G>C
NM_001242886.2:c.202-5G>C (DDC) NP_001229815.2:n.202-5G>C
NM_001242887.1:c.316-5G>C (DDC) NP_001229816.1:n.316-5G>C
NM_001242887.2:c.316-5G>C (DDC) NP_001229816.2:n.316-5G>C
NM_001242888.1:c.201+5901G>C (DDC) NP_001229817.1:n.201+5901G>C
NM_001242888.2:c.201+5901G>C (DDC) NP_001229817.2:n.201+5901G>C
NM_001242889.1:c.316-5G>C (DDC) NP_001229818.1:n.316-5G>C
NM_001242889.2:c.316-5G>C (DDC) NP_001229818.2:n.316-5G>C
NM_001242890.1:c.316-5G>C (DDC) NP_001229819.1:n.316-5G>C
NM_001242890.2:c.316-5G>C (DDC) NP_001229819.2:n.316-5G>C
NR_033845.1:n.125-1130C>G (DDC-AS1)
ENST00000357936.9:c.316-5G>C (DDC) ENSP00000350616.5:n.316-5G>C
ENST00000380984.4:c.316-5G>C (DDC) ENSP00000370371.4:n.316-5G>C
ENST00000426377.5:c.201+5901G>C (DDC) ENSP00000395069.1:n.201+5901G>C
ENST00000430300.5:c.212+1931G>C (DDC)
ENST00000431062.5:c.316-5G>C (DDC) ENSP00000399184.1:n.316-5G>C
ENST00000444124.6:c.316-5G>C (DDC) ENSP00000403644.2:n.316-5G>C
ENST00000444733.5:c.202-5G>C (DDC) ENSP00000393724.1:n.202-5G>C
ENST00000489162.1:n.115-5G>C (DDC)
ENST00000613602.3:c.-11+4534G>C (FIGNL1) ENSP00000481751.1:n.-11+4534G>C
ENST00000615193.4:c.316-5G>C (DDC) ENSP00000484104.1:n.316-5G>C
ENST00000617822.4:c.316-5G>C (DDC) ENSP00000478385.1:n.316-5G>C
ENST00000622873.4:c.202-5G>C (DDC) ENSP00000479110.1:n.202-5G>C
XM_005271745.3:c.202-5G>C (DDC) XP_005271802.1:n.202-5G>C
XM_005271745.4:c.202-5G>C (DDC) XP_005271802.1:n.202-5G>C
XM_011515161.1:c.-36-5G>C (DDC) XP_011513463.1:n.-36-5G>C
XM_011515161.2:c.259-5G>C (DDC) XP_011513463.2:n.259-5G>C