Canonical Allele Identifier: CA454931429
Community Standard Title: NM_001082971.2(DDC):c.1386G>A (p.Arg462=)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50463288C>T , CM000669.2:g.50463288C>T GRCh38
NC_000007.13:g.50530986C>T , CM000669.1:g.50530986C>T GRCh37
NC_000007.12:g.50498480C>T NCBI36
NG_008742.1:g.107169G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001082971.2:c.1386G>A (DDC) MANE Select NP_001076440.2:p.Arg462=
ENST00000444124.7:c.1386G>A (DDC) MANE Select ENSP00000403644.2:p.Arg462=
NM_000790.3:c.1386G>A (DDC) NP_000781.1:p.Arg462=
NM_000790.4:c.1386G>A (DDC) NP_000781.2:p.Arg462=
NM_001082971.1:c.1386G>A (DDC) NP_001076440.1:p.Arg462=
NM_001242886.1:c.1272G>A (DDC) NP_001229815.1:p.Arg424=
NM_001242886.2:c.1272G>A (DDC) NP_001229815.2:p.Arg424=
NM_001242887.1:c.1242G>A (DDC) NP_001229816.1:p.Arg414=
NM_001242887.2:c.1242G>A (DDC) NP_001229816.2:p.Arg414=
NM_001242888.1:c.1152G>A (DDC) NP_001229817.1:p.Arg384=
NM_001242888.2:c.1152G>A (DDC) NP_001229817.2:p.Arg384=
NM_001242889.1:c.1107G>A (DDC) NP_001229818.1:p.Arg369=
NM_001242889.2:c.1107G>A (DDC) NP_001229818.2:p.Arg369=
ENST00000357936.9:c.1386G>A (DDC) ENSP00000350616.5:p.Arg462=
ENST00000426377.5:c.1152G>A (DDC) ENSP00000395069.1:p.Arg384=
ENST00000430300.5:c.1028G>A (DDC)
ENST00000431062.5:c.1107G>A (DDC) ENSP00000399184.1:p.Arg369=
ENST00000444124.6:c.1386G>A (DDC) ENSP00000403644.2:p.Arg462=
ENST00000444733.5:c.*487G>A (DDC) ENSP00000393724.1:n.*487G>A
ENST00000494914.1:n.542G>A (DDC)
ENST00000613602.3:c.-10-15991G>A (FIGNL1) ENSP00000481751.1:n.-10-15991G>A
ENST00000615193.4:c.1107G>A (DDC) ENSP00000484104.1:p.Arg369=
ENST00000617822.4:c.1242G>A (DDC) ENSP00000478385.1:p.Arg414=
ENST00000622873.4:c.1272G>A (DDC) ENSP00000479110.1:p.Arg424=
XM_005271745.3:c.1272G>A (DDC) XP_005271802.1:p.Arg424=
XM_005271745.4:c.1272G>A (DDC) XP_005271802.1:p.Arg424=
XM_011515161.1:c.1035G>A (DDC) XP_011513463.1:p.Arg345=
XM_011515161.2:c.1329G>A (DDC) XP_011513463.2:p.Arg443=