Canonical Allele Identifier: CA367538144

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50495402T>A , CM000669.2:g.50495402T>A GRCh38
NC_000007.13:g.50563100T>A , CM000669.1:g.50563100T>A GRCh37
NC_000007.12:g.50530594T>A NCBI36
NG_008742.1:g.75055A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000444124.7:c.892A>T (DDC) MANE Select ENSP00000403644.2:p.Asn298Tyr
ENST00000357936.9:c.892A>T (DDC) ENSP00000350616.5:p.Asn298Tyr
ENST00000380984.4:c.892A>T (DDC) ENSP00000370371.4:p.Asn298Tyr
ENST00000426377.5:c.658A>T (DDC) ENSP00000395069.1:p.Asn220Tyr
ENST00000430300.5:c.534A>T (DDC)
ENST00000431062.5:c.613A>T (DDC) ENSP00000399184.1:p.Asn205Tyr
ENST00000444124.6:c.892A>T (DDC) ENSP00000403644.2:p.Asn298Tyr
ENST00000444733.5:c.683A>T (DDC) ENSP00000393724.1:p.Gln228Leu
ENST00000613602.3:c.-11+47116A>T (FIGNL1) ENSP00000481751.1:n.-11+47116A>T
ENST00000615193.4:c.613A>T (DDC) ENSP00000484104.1:p.Asn205Tyr
ENST00000617822.4:c.748A>T (DDC) ENSP00000478385.1:p.Asn250Tyr
ENST00000622873.4:c.778A>T (DDC) ENSP00000479110.1:p.Asn260Tyr
NM_000790.3:c.892A>T (DDC) NP_000781.1:p.Asn298Tyr
NM_001082971.1:c.892A>T (DDC) NP_001076440.1:p.Asn298Tyr
NM_001242886.1:c.778A>T (DDC) NP_001229815.1:p.Asn260Tyr
NM_001242887.1:c.748A>T (DDC) NP_001229816.1:p.Asn250Tyr
NM_001242888.1:c.658A>T (DDC) NP_001229817.1:p.Asn220Tyr
NM_001242889.1:c.613A>T (DDC) NP_001229818.1:p.Asn205Tyr
NM_001242890.1:c.892A>T (DDC) NP_001229819.1:p.Asn298Tyr
XM_005271745.3:c.778A>T (DDC) XP_005271802.1:p.Asn260Tyr
XM_011515161.1:c.541A>T (DDC) XP_011513463.1:p.Asn181Tyr
XM_005271745.4:c.778A>T (DDC) XP_005271802.1:p.Asn260Tyr
XM_011515161.2:c.835A>T (DDC) XP_011513463.2:p.Asn279Tyr
NM_001082971.2:c.892A>T (DDC) MANE Select NP_001076440.2:p.Asn298Tyr
NM_000790.4:c.892A>T (DDC) NP_000781.2:p.Asn298Tyr
NM_001242888.2:c.658A>T (DDC) NP_001229817.2:p.Asn220Tyr
NM_001242890.2:c.892A>T (DDC) NP_001229819.2:p.Asn298Tyr
NM_001242886.2:c.778A>T (DDC) NP_001229815.2:p.Asn260Tyr
NM_001242887.2:c.748A>T (DDC) NP_001229816.2:p.Asn250Tyr
NM_001242889.2:c.613A>T (DDC) NP_001229818.2:p.Asn205Tyr