Canonical Allele Identifier: CA454932393

Linked Data

MyVariant Identifiers: chr7:g.50544331A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50476633A>T , CM000669.2:g.50476633A>T GRCh38
NC_000007.13:g.50544331A>T , CM000669.1:g.50544331A>T GRCh37
NC_000007.12:g.50511825A>T NCBI36
NG_008742.1:g.93824T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000444124.7:c.1032T>A (DDC) MANE Select ENSP00000403644.2:p.Thr344=
ENST00000357936.9:c.1032T>A (DDC) ENSP00000350616.5:p.Thr344=
ENST00000426377.5:c.798T>A (DDC) ENSP00000395069.1:p.Thr266=
ENST00000430300.5:c.674T>A (DDC)
ENST00000431062.5:c.753T>A (DDC) ENSP00000399184.1:p.Thr251=
ENST00000444124.6:c.1032T>A (DDC) ENSP00000403644.2:p.Thr344=
ENST00000444733.5:c.*133T>A (DDC) ENSP00000393724.1:n.*133T>A
ENST00000494914.1:n.188T>A (DDC)
ENST00000613602.3:c.-10-29336T>A (FIGNL1) ENSP00000481751.1:n.-10-29336T>A
ENST00000615193.4:c.753T>A (DDC) ENSP00000484104.1:p.Thr251=
ENST00000617822.4:c.888T>A (DDC) ENSP00000478385.1:p.Thr296=
ENST00000622873.4:c.918T>A (DDC) ENSP00000479110.1:p.Thr306=
NM_000790.3:c.1032T>A (DDC) NP_000781.1:p.Thr344=
NM_001082971.1:c.1032T>A (DDC) NP_001076440.1:p.Thr344=
NM_001242886.1:c.918T>A (DDC) NP_001229815.1:p.Thr306=
NM_001242887.1:c.888T>A (DDC) NP_001229816.1:p.Thr296=
NM_001242888.1:c.798T>A (DDC) NP_001229817.1:p.Thr266=
NM_001242889.1:c.753T>A (DDC) NP_001229818.1:p.Thr251=
XM_005271745.3:c.918T>A (DDC) XP_005271802.1:p.Thr306=
XM_011515161.1:c.681T>A (DDC) XP_011513463.1:p.Thr227=
XM_005271745.4:c.918T>A (DDC) XP_005271802.1:p.Thr306=
XM_011515161.2:c.975T>A (DDC) XP_011513463.2:p.Thr325=
NM_001082971.2:c.1032T>A (DDC) MANE Select NP_001076440.2:p.Thr344=
NM_000790.4:c.1032T>A (DDC) NP_000781.2:p.Thr344=
NM_001242888.2:c.798T>A (DDC) NP_001229817.2:p.Thr266=
NM_001242886.2:c.918T>A (DDC) NP_001229815.2:p.Thr306=
NM_001242887.2:c.888T>A (DDC) NP_001229816.2:p.Thr296=
NM_001242889.2:c.753T>A (DDC) NP_001229818.2:p.Thr251=