Canonical Allele Identifier: CA454936326

Linked Data

MyVariant Identifiers: chr7:g.50571731T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50504033T>G , CM000669.2:g.50504033T>G GRCh38
NC_000007.13:g.50571731T>G , CM000669.1:g.50571731T>G GRCh37
NC_000007.12:g.50539225T>G NCBI36
NG_008742.1:g.66424A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000444124.7:c.741A>C (DDC) MANE Select ENSP00000403644.2:p.Thr247=
ENST00000357936.9:c.741A>C (DDC) ENSP00000350616.5:p.Thr247=
ENST00000380984.4:c.741A>C (DDC) ENSP00000370371.4:p.Thr247=
ENST00000426377.5:c.507A>C (DDC) ENSP00000395069.1:p.Thr169=
ENST00000430300.5:c.383A>C (DDC)
ENST00000431062.5:c.462A>C (DDC) ENSP00000399184.1:p.Thr154=
ENST00000444124.6:c.741A>C (DDC) ENSP00000403644.2:p.Thr247=
ENST00000444733.5:c.627A>C (DDC) ENSP00000393724.1:p.Thr209=
ENST00000613602.3:c.-11+38485A>C (FIGNL1) ENSP00000481751.1:n.-11+38485A>C
ENST00000615193.4:c.462A>C (DDC) ENSP00000484104.1:p.Thr154=
ENST00000617822.4:c.597A>C (DDC) ENSP00000478385.1:p.Thr199=
ENST00000622873.4:c.627A>C (DDC) ENSP00000479110.1:p.Thr209=
NM_000790.3:c.741A>C (DDC) NP_000781.1:p.Thr247=
NM_001082971.1:c.741A>C (DDC) NP_001076440.1:p.Thr247=
NM_001242886.1:c.627A>C (DDC) NP_001229815.1:p.Thr209=
NM_001242887.1:c.597A>C (DDC) NP_001229816.1:p.Thr199=
NM_001242888.1:c.507A>C (DDC) NP_001229817.1:p.Thr169=
NM_001242889.1:c.462A>C (DDC) NP_001229818.1:p.Thr154=
NM_001242890.1:c.741A>C (DDC) NP_001229819.1:p.Thr247=
XM_005271745.3:c.627A>C (DDC) XP_005271802.1:p.Thr209=
XM_011515161.1:c.390A>C (DDC) XP_011513463.1:p.Thr130=
XM_005271745.4:c.627A>C (DDC) XP_005271802.1:p.Thr209=
XM_011515161.2:c.684A>C (DDC) XP_011513463.2:p.Thr228=
NM_001082971.2:c.741A>C (DDC) MANE Select NP_001076440.2:p.Thr247=
NM_000790.4:c.741A>C (DDC) NP_000781.2:p.Thr247=
NM_001242888.2:c.507A>C (DDC) NP_001229817.2:p.Thr169=
NM_001242890.2:c.741A>C (DDC) NP_001229819.2:p.Thr247=
NM_001242886.2:c.627A>C (DDC) NP_001229815.2:p.Thr209=
NM_001242887.2:c.597A>C (DDC) NP_001229816.2:p.Thr199=
NM_001242889.2:c.462A>C (DDC) NP_001229818.2:p.Thr154=