Canonical Allele Identifier: CA2838977581

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50500967G>A , CM000669.2:g.50500967G>A GRCh38
NC_000007.13:g.50568665G>A , CM000669.1:g.50568665G>A GRCh37
NC_000007.12:g.50536159G>A NCBI36
NG_008742.1:g.69490C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000444124.7:c.782-1725C>T (DDC) MANE Select ENSP00000403644.2:n.782-1725C>T
ENST00000357936.9:c.782-1725C>T (DDC) ENSP00000350616.5:n.782-1725C>T
ENST00000380984.4:c.782-1725C>T (DDC) ENSP00000370371.4:n.782-1725C>T
ENST00000426377.5:c.548-1725C>T (DDC) ENSP00000395069.1:n.548-1725C>T
ENST00000430300.5:c.424-1725C>T (DDC)
ENST00000431062.5:c.503-1725C>T (DDC) ENSP00000399184.1:n.503-1725C>T
ENST00000444124.6:c.782-1725C>T (DDC) ENSP00000403644.2:n.782-1725C>T
ENST00000444733.5:c.667+3026C>T (DDC) ENSP00000393724.1:n.667+3026C>T
ENST00000613602.3:c.-11+41551C>T (FIGNL1) ENSP00000481751.1:n.-11+41551C>T
ENST00000615193.4:c.503-1725C>T (DDC) ENSP00000484104.1:n.503-1725C>T
ENST00000617822.4:c.638-1725C>T (DDC) ENSP00000478385.1:n.638-1725C>T
ENST00000622873.4:c.668-1725C>T (DDC) ENSP00000479110.1:n.668-1725C>T
NM_000790.3:c.782-1725C>T (DDC) NP_000781.1:n.782-1725C>T
NM_001082971.1:c.782-1725C>T (DDC) NP_001076440.1:n.782-1725C>T
NM_001242886.1:c.668-1725C>T (DDC) NP_001229815.1:n.668-1725C>T
NM_001242887.1:c.638-1725C>T (DDC) NP_001229816.1:n.638-1725C>T
NM_001242888.1:c.548-1725C>T (DDC) NP_001229817.1:n.548-1725C>T
NM_001242889.1:c.503-1725C>T (DDC) NP_001229818.1:n.503-1725C>T
NM_001242890.1:c.782-1725C>T (DDC) NP_001229819.1:n.782-1725C>T
XM_005271745.3:c.668-1725C>T (DDC) XP_005271802.1:n.668-1725C>T
XM_011515161.1:c.431-1725C>T (DDC) XP_011513463.1:n.431-1725C>T
XM_005271745.4:c.668-1725C>T (DDC) XP_005271802.1:n.668-1725C>T
XM_011515161.2:c.725-1725C>T (DDC) XP_011513463.2:n.725-1725C>T
NM_001082971.2:c.782-1725C>T (DDC) MANE Select NP_001076440.2:n.782-1725C>T
NM_000790.4:c.782-1725C>T (DDC) NP_000781.2:n.782-1725C>T
NM_001242888.2:c.548-1725C>T (DDC) NP_001229817.2:n.548-1725C>T
NM_001242890.2:c.782-1725C>T (DDC) NP_001229819.2:n.782-1725C>T
NM_001242886.2:c.668-1725C>T (DDC) NP_001229815.2:n.668-1725C>T
NM_001242887.2:c.638-1725C>T (DDC) NP_001229816.2:n.638-1725C>T
NM_001242889.2:c.503-1725C>T (DDC) NP_001229818.2:n.503-1725C>T