Canonical Allele Identifier: CA367538163

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50495410T>A , CM000669.2:g.50495410T>A GRCh38
NC_000007.13:g.50563108T>A , CM000669.1:g.50563108T>A GRCh37
NC_000007.12:g.50530602T>A NCBI36
NG_008742.1:g.75047A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000444124.7:c.884A>T (DDC) MANE Select ENSP00000403644.2:p.Asp295Val
ENST00000357936.9:c.884A>T (DDC) ENSP00000350616.5:p.Asp295Val
ENST00000380984.4:c.884A>T (DDC) ENSP00000370371.4:p.Asp295Val
ENST00000426377.5:c.650A>T (DDC) ENSP00000395069.1:p.Asp217Val
ENST00000430300.5:c.526A>T (DDC)
ENST00000431062.5:c.605A>T (DDC) ENSP00000399184.1:p.Asp202Val
ENST00000444124.6:c.884A>T (DDC) ENSP00000403644.2:p.Asp295Val
ENST00000444733.5:c.675A>T (DDC) ENSP00000393724.1:p.Arg225Ser
ENST00000613602.3:c.-11+47108A>T (FIGNL1) ENSP00000481751.1:n.-11+47108A>T
ENST00000615193.4:c.605A>T (DDC) ENSP00000484104.1:p.Asp202Val
ENST00000617822.4:c.740A>T (DDC) ENSP00000478385.1:p.Asp247Val
ENST00000622873.4:c.770A>T (DDC) ENSP00000479110.1:p.Asp257Val
NM_000790.3:c.884A>T (DDC) NP_000781.1:p.Asp295Val
NM_001082971.1:c.884A>T (DDC) NP_001076440.1:p.Asp295Val
NM_001242886.1:c.770A>T (DDC) NP_001229815.1:p.Asp257Val
NM_001242887.1:c.740A>T (DDC) NP_001229816.1:p.Asp247Val
NM_001242888.1:c.650A>T (DDC) NP_001229817.1:p.Asp217Val
NM_001242889.1:c.605A>T (DDC) NP_001229818.1:p.Asp202Val
NM_001242890.1:c.884A>T (DDC) NP_001229819.1:p.Asp295Val
XM_005271745.3:c.770A>T (DDC) XP_005271802.1:p.Asp257Val
XM_011515161.1:c.533A>T (DDC) XP_011513463.1:p.Asp178Val
XM_005271745.4:c.770A>T (DDC) XP_005271802.1:p.Asp257Val
XM_011515161.2:c.827A>T (DDC) XP_011513463.2:p.Asp276Val
NM_001082971.2:c.884A>T (DDC) MANE Select NP_001076440.2:p.Asp295Val
NM_000790.4:c.884A>T (DDC) NP_000781.2:p.Asp295Val
NM_001242888.2:c.650A>T (DDC) NP_001229817.2:p.Asp217Val
NM_001242890.2:c.884A>T (DDC) NP_001229819.2:p.Asp295Val
NM_001242886.2:c.770A>T (DDC) NP_001229815.2:p.Asp257Val
NM_001242887.2:c.740A>T (DDC) NP_001229816.2:p.Asp247Val
NM_001242889.2:c.605A>T (DDC) NP_001229818.2:p.Asp202Val