Canonical Allele Identifier: CA1706649208

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50529298C= , CM000669.2:g.50529298C= GRCh38
NC_000007.13:g.50596996C= , CM000669.1:g.50596996C= GRCh37
NC_000007.12:g.50564490C= NCBI36
NG_008742.1:g.41159G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000444124.7:c.480G= (DDC) MANE Select ENSP00000403644.2:p.Arg160=
ENST00000357936.9:c.480G= (DDC) ENSP00000350616.5:p.Arg160=
ENST00000380984.4:c.480G= (DDC) ENSP00000370371.4:p.Arg160=
ENST00000426377.5:c.246G= (DDC) ENSP00000395069.1:p.Arg82=
ENST00000430300.5:c.213-1018G= (DDC)
ENST00000431062.5:c.435+8562G= (DDC) ENSP00000399184.1:n.435+8562G=
ENST00000444124.6:c.480G= (DDC) ENSP00000403644.2:p.Arg160=
ENST00000444733.5:c.366G= (DDC) ENSP00000393724.1:p.Arg122=
ENST00000489162.1:n.279G= (DDC)
ENST00000613602.3:c.-11+13220G= (FIGNL1) ENSP00000481751.1:n.-11+13220G=
ENST00000615193.4:c.435+8562G= (DDC) ENSP00000484104.1:n.435+8562G=
ENST00000617822.4:c.480G= (DDC) ENSP00000478385.1:p.Arg160=
ENST00000622873.4:c.366G= (DDC) ENSP00000479110.1:p.Arg122=
NM_000790.3:c.480G= (DDC) NP_000781.1:p.Arg160=
NM_001082971.1:c.480G= (DDC) NP_001076440.1:p.Arg160=
NM_001242886.1:c.366G= (DDC) NP_001229815.1:p.Arg122=
NM_001242887.1:c.480G= (DDC) NP_001229816.1:p.Arg160=
NM_001242888.1:c.246G= (DDC) NP_001229817.1:p.Arg82=
NM_001242889.1:c.435+8562G= (DDC) NP_001229818.1:n.435+8562G=
NM_001242890.1:c.480G= (DDC) NP_001229819.1:p.Arg160=
XM_005271745.3:c.366G= (DDC) XP_005271802.1:p.Arg122=
XM_011515161.1:c.129G= (DDC) XP_011513463.1:p.Arg43=
XM_005271745.4:c.366G= (DDC) XP_005271802.1:p.Arg122=
XM_011515161.2:c.423G= (DDC) XP_011513463.2:p.Arg141=
NM_001082971.2:c.480G= (DDC) MANE Select NP_001076440.2:p.Arg160=
NM_000790.4:c.480G= (DDC) NP_000781.2:p.Arg160=
NM_001242888.2:c.246G= (DDC) NP_001229817.2:p.Arg82=
NM_001242890.2:c.480G= (DDC) NP_001229819.2:p.Arg160=
NM_001242886.2:c.366G= (DDC) NP_001229815.2:p.Arg122=
NM_001242887.2:c.480G= (DDC) NP_001229816.2:p.Arg160=
NM_001242889.2:c.435+8562G= (DDC) NP_001229818.2:n.435+8562G=