Canonical Allele Identifier: CA1706649167

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50529251T= , CM000669.2:g.50529251T= GRCh38
NC_000007.13:g.50596949T= , CM000669.1:g.50596949T= GRCh37
NC_000007.12:g.50564443T= NCBI36
NG_008742.1:g.41206A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000444124.7:c.527A= (DDC) MANE Select ENSP00000403644.2:p.Gln176=
ENST00000357936.9:c.527A= (DDC) ENSP00000350616.5:p.Gln176=
ENST00000380984.4:c.527A= (DDC) ENSP00000370371.4:p.Gln176=
ENST00000426377.5:c.293A= (DDC) ENSP00000395069.1:p.Gln98=
ENST00000430300.5:c.213-971A= (DDC)
ENST00000431062.5:c.435+8609A= (DDC) ENSP00000399184.1:n.435+8609A=
ENST00000444124.6:c.527A= (DDC) ENSP00000403644.2:p.Gln176=
ENST00000444733.5:c.413A= (DDC) ENSP00000393724.1:p.Gln138=
ENST00000489162.1:n.326A= (DDC)
ENST00000613602.3:c.-11+13267A= (FIGNL1) ENSP00000481751.1:n.-11+13267A=
ENST00000615193.4:c.435+8609A= (DDC) ENSP00000484104.1:n.435+8609A=
ENST00000617822.4:c.527A= (DDC) ENSP00000478385.1:p.Gln176=
ENST00000622873.4:c.413A= (DDC) ENSP00000479110.1:p.Gln138=
NM_000790.3:c.527A= (DDC) NP_000781.1:p.Gln176=
NM_001082971.1:c.527A= (DDC) NP_001076440.1:p.Gln176=
NM_001242886.1:c.413A= (DDC) NP_001229815.1:p.Gln138=
NM_001242887.1:c.527A= (DDC) NP_001229816.1:p.Gln176=
NM_001242888.1:c.293A= (DDC) NP_001229817.1:p.Gln98=
NM_001242889.1:c.435+8609A= (DDC) NP_001229818.1:n.435+8609A=
NM_001242890.1:c.527A= (DDC) NP_001229819.1:p.Gln176=
XM_005271745.3:c.413A= (DDC) XP_005271802.1:p.Gln138=
XM_011515161.1:c.176A= (DDC) XP_011513463.1:p.Gln59=
XM_005271745.4:c.413A= (DDC) XP_005271802.1:p.Gln138=
XM_011515161.2:c.470A= (DDC) XP_011513463.2:p.Gln157=
NM_001082971.2:c.527A= (DDC) MANE Select NP_001076440.2:p.Gln176=
NM_000790.4:c.527A= (DDC) NP_000781.2:p.Gln176=
NM_001242888.2:c.293A= (DDC) NP_001229817.2:p.Gln98=
NM_001242890.2:c.527A= (DDC) NP_001229819.2:p.Gln176=
NM_001242886.2:c.413A= (DDC) NP_001229815.2:p.Gln138=
NM_001242887.2:c.527A= (DDC) NP_001229816.2:p.Gln176=
NM_001242889.2:c.435+8609A= (DDC) NP_001229818.2:n.435+8609A=