Canonical Allele Identifier: CA454934939

Linked Data

MyVariant Identifiers: chr7:g.50563056A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50495358A>T , CM000669.2:g.50495358A>T GRCh38
NC_000007.13:g.50563056A>T , CM000669.1:g.50563056A>T GRCh37
NC_000007.12:g.50530550A>T NCBI36
NG_008742.1:g.75099T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000444124.7:c.936T>A (DDC) MANE Select ENSP00000403644.2:p.Ser312=
ENST00000357936.9:c.936T>A (DDC) ENSP00000350616.5:p.Ser312=
ENST00000380984.4:c.936T>A (DDC) ENSP00000370371.4:p.Ser312=
ENST00000426377.5:c.702T>A (DDC) ENSP00000395069.1:p.Ser234=
ENST00000430300.5:c.578T>A (DDC)
ENST00000431062.5:c.657T>A (DDC) ENSP00000399184.1:p.Ser219=
ENST00000444124.6:c.936T>A (DDC) ENSP00000403644.2:p.Ser312=
ENST00000444733.5:c.*37T>A (DDC) ENSP00000393724.1:n.*37T>A
ENST00000613602.3:c.-11+47160T>A (FIGNL1) ENSP00000481751.1:n.-11+47160T>A
ENST00000615193.4:c.657T>A (DDC) ENSP00000484104.1:p.Ser219=
ENST00000617822.4:c.792T>A (DDC) ENSP00000478385.1:p.Ser264=
ENST00000622873.4:c.822T>A (DDC) ENSP00000479110.1:p.Ser274=
NM_000790.3:c.936T>A (DDC) NP_000781.1:p.Ser312=
NM_001082971.1:c.936T>A (DDC) NP_001076440.1:p.Ser312=
NM_001242886.1:c.822T>A (DDC) NP_001229815.1:p.Ser274=
NM_001242887.1:c.792T>A (DDC) NP_001229816.1:p.Ser264=
NM_001242888.1:c.702T>A (DDC) NP_001229817.1:p.Ser234=
NM_001242889.1:c.657T>A (DDC) NP_001229818.1:p.Ser219=
NM_001242890.1:c.936T>A (DDC) NP_001229819.1:p.Ser312=
XM_005271745.3:c.822T>A (DDC) XP_005271802.1:p.Ser274=
XM_011515161.1:c.585T>A (DDC) XP_011513463.1:p.Ser195=
XM_005271745.4:c.822T>A (DDC) XP_005271802.1:p.Ser274=
XM_011515161.2:c.879T>A (DDC) XP_011513463.2:p.Ser293=
NM_001082971.2:c.936T>A (DDC) MANE Select NP_001076440.2:p.Ser312=
NM_000790.4:c.936T>A (DDC) NP_000781.2:p.Ser312=
NM_001242888.2:c.702T>A (DDC) NP_001229817.2:p.Ser234=
NM_001242890.2:c.936T>A (DDC) NP_001229819.2:p.Ser312=
NM_001242886.2:c.822T>A (DDC) NP_001229815.2:p.Ser274=
NM_001242887.2:c.792T>A (DDC) NP_001229816.2:p.Ser264=
NM_001242889.2:c.657T>A (DDC) NP_001229818.2:p.Ser219=