Canonical Allele Identifier: CA367526838

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50529329T>C , CM000669.2:g.50529329T>C GRCh38
NC_000007.13:g.50597027T>C , CM000669.1:g.50597027T>C GRCh37
NC_000007.12:g.50564521T>C NCBI36
NG_008742.1:g.41128A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000444124.7:c.449A>G (DDC) MANE Select ENSP00000403644.2:p.Glu150Gly
ENST00000357936.9:c.449A>G (DDC) ENSP00000350616.5:p.Glu150Gly
ENST00000380984.4:c.449A>G (DDC) ENSP00000370371.4:p.Glu150Gly
ENST00000426377.5:c.215A>G (DDC) ENSP00000395069.1:p.Glu72Gly
ENST00000430300.5:c.213-1049A>G (DDC)
ENST00000431062.5:c.435+8531A>G (DDC) ENSP00000399184.1:n.435+8531A>G
ENST00000444124.6:c.449A>G (DDC) ENSP00000403644.2:p.Glu150Gly
ENST00000444733.5:c.335A>G (DDC) ENSP00000393724.1:p.Glu112Gly
ENST00000489162.1:n.248A>G (DDC)
ENST00000613602.3:c.-11+13189A>G (FIGNL1) ENSP00000481751.1:n.-11+13189A>G
ENST00000615193.4:c.435+8531A>G (DDC) ENSP00000484104.1:n.435+8531A>G
ENST00000617822.4:c.449A>G (DDC) ENSP00000478385.1:p.Glu150Gly
ENST00000622873.4:c.335A>G (DDC) ENSP00000479110.1:p.Glu112Gly
NM_000790.3:c.449A>G (DDC) NP_000781.1:p.Glu150Gly
NM_001082971.1:c.449A>G (DDC) NP_001076440.1:p.Glu150Gly
NM_001242886.1:c.335A>G (DDC) NP_001229815.1:p.Glu112Gly
NM_001242887.1:c.449A>G (DDC) NP_001229816.1:p.Glu150Gly
NM_001242888.1:c.215A>G (DDC) NP_001229817.1:p.Glu72Gly
NM_001242889.1:c.435+8531A>G (DDC) NP_001229818.1:n.435+8531A>G
NM_001242890.1:c.449A>G (DDC) NP_001229819.1:p.Glu150Gly
XM_005271745.3:c.335A>G (DDC) XP_005271802.1:p.Glu112Gly
XM_011515161.1:c.98A>G (DDC) XP_011513463.1:p.Glu33Gly
XM_005271745.4:c.335A>G (DDC) XP_005271802.1:p.Glu112Gly
XM_011515161.2:c.392A>G (DDC) XP_011513463.2:p.Glu131Gly
NM_001082971.2:c.449A>G (DDC) MANE Select NP_001076440.2:p.Glu150Gly
NM_000790.4:c.449A>G (DDC) NP_000781.2:p.Glu150Gly
NM_001242888.2:c.215A>G (DDC) NP_001229817.2:p.Glu72Gly
NM_001242890.2:c.449A>G (DDC) NP_001229819.2:p.Glu150Gly
NM_001242886.2:c.335A>G (DDC) NP_001229815.2:p.Glu112Gly
NM_001242887.2:c.449A>G (DDC) NP_001229816.2:p.Glu150Gly
NM_001242889.2:c.435+8531A>G (DDC) NP_001229818.2:n.435+8531A>G