Canonical Allele Identifier: CA454935054

Linked Data

dbSNP Id: rs1490811052
gnomAD v2: 7-50563104-T-C
gnomAD v4: 7-50495406-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50495406T>C , CM000669.2:g.50495406T>C GRCh38
NC_000007.13:g.50563104T>C , CM000669.1:g.50563104T>C GRCh37
NC_000007.12:g.50530598T>C NCBI36
NG_008742.1:g.75051A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000444124.7:c.888A>G (DDC) MANE Select ENSP00000403644.2:p.Ser296=
ENST00000357936.9:c.888A>G (DDC) ENSP00000350616.5:p.Ser296=
ENST00000380984.4:c.888A>G (DDC) ENSP00000370371.4:p.Ser296=
ENST00000426377.5:c.654A>G (DDC) ENSP00000395069.1:p.Ser218=
ENST00000430300.5:c.530A>G (DDC)
ENST00000431062.5:c.609A>G (DDC) ENSP00000399184.1:p.Ser203=
ENST00000444124.6:c.888A>G (DDC) ENSP00000403644.2:p.Ser296=
ENST00000444733.5:c.679A>G (DDC) ENSP00000393724.1:p.Ile227Val
ENST00000613602.3:c.-11+47112A>G (FIGNL1) ENSP00000481751.1:n.-11+47112A>G
ENST00000615193.4:c.609A>G (DDC) ENSP00000484104.1:p.Ser203=
ENST00000617822.4:c.744A>G (DDC) ENSP00000478385.1:p.Ser248=
ENST00000622873.4:c.774A>G (DDC) ENSP00000479110.1:p.Ser258=
NM_000790.3:c.888A>G (DDC) NP_000781.1:p.Ser296=
NM_001082971.1:c.888A>G (DDC) NP_001076440.1:p.Ser296=
NM_001242886.1:c.774A>G (DDC) NP_001229815.1:p.Ser258=
NM_001242887.1:c.744A>G (DDC) NP_001229816.1:p.Ser248=
NM_001242888.1:c.654A>G (DDC) NP_001229817.1:p.Ser218=
NM_001242889.1:c.609A>G (DDC) NP_001229818.1:p.Ser203=
NM_001242890.1:c.888A>G (DDC) NP_001229819.1:p.Ser296=
XM_005271745.3:c.774A>G (DDC) XP_005271802.1:p.Ser258=
XM_011515161.1:c.537A>G (DDC) XP_011513463.1:p.Ser179=
XM_005271745.4:c.774A>G (DDC) XP_005271802.1:p.Ser258=
XM_011515161.2:c.831A>G (DDC) XP_011513463.2:p.Ser277=
NM_001082971.2:c.888A>G (DDC) MANE Select NP_001076440.2:p.Ser296=
NM_000790.4:c.888A>G (DDC) NP_000781.2:p.Ser296=
NM_001242888.2:c.654A>G (DDC) NP_001229817.2:p.Ser218=
NM_001242890.2:c.888A>G (DDC) NP_001229819.2:p.Ser296=
NM_001242886.2:c.774A>G (DDC) NP_001229815.2:p.Ser258=
NM_001242887.2:c.744A>G (DDC) NP_001229816.2:p.Ser248=
NM_001242889.2:c.609A>G (DDC) NP_001229818.2:p.Ser203=