Canonical Allele Identifier: CA367528602
Community Standard Title: NM_001082971.2(DDC):c.1243G>T (p.Gly415Cys)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50463431C>A , CM000669.2:g.50463431C>A GRCh38
NC_000007.13:g.50531129C>A , CM000669.1:g.50531129C>A GRCh37
NC_000007.12:g.50498623C>A NCBI36
NG_008742.1:g.107026G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001082971.2:c.1243G>T (DDC) MANE Select NP_001076440.2:p.Gly415Cys
ENST00000444124.7:c.1243G>T (DDC) MANE Select ENSP00000403644.2:p.Gly415Cys
NM_000790.3:c.1243G>T (DDC) NP_000781.1:p.Gly415Cys
NM_000790.4:c.1243G>T (DDC) NP_000781.2:p.Gly415Cys
NM_001082971.1:c.1243G>T (DDC) NP_001076440.1:p.Gly415Cys
NM_001242886.1:c.1129G>T (DDC) NP_001229815.1:p.Gly377Cys
NM_001242886.2:c.1129G>T (DDC) NP_001229815.2:p.Gly377Cys
NM_001242887.1:c.1099G>T (DDC) NP_001229816.1:p.Gly367Cys
NM_001242887.2:c.1099G>T (DDC) NP_001229816.2:p.Gly367Cys
NM_001242888.1:c.1009G>T (DDC) NP_001229817.1:p.Gly337Cys
NM_001242888.2:c.1009G>T (DDC) NP_001229817.2:p.Gly337Cys
NM_001242889.1:c.964G>T (DDC) NP_001229818.1:p.Gly322Cys
NM_001242889.2:c.964G>T (DDC) NP_001229818.2:p.Gly322Cys
ENST00000357936.9:c.1243G>T (DDC) ENSP00000350616.5:p.Gly415Cys
ENST00000426377.5:c.1009G>T (DDC) ENSP00000395069.1:p.Gly337Cys
ENST00000430300.5:c.885G>T (DDC)
ENST00000431062.5:c.964G>T (DDC) ENSP00000399184.1:p.Gly322Cys
ENST00000444124.6:c.1243G>T (DDC) ENSP00000403644.2:p.Gly415Cys
ENST00000444733.5:c.*344G>T (DDC) ENSP00000393724.1:n.*344G>T
ENST00000494914.1:n.399G>T (DDC)
ENST00000613602.3:c.-10-16134G>T (FIGNL1) ENSP00000481751.1:n.-10-16134G>T
ENST00000615193.4:c.964G>T (DDC) ENSP00000484104.1:p.Gly322Cys
ENST00000617822.4:c.1099G>T (DDC) ENSP00000478385.1:p.Gly367Cys
ENST00000622873.4:c.1129G>T (DDC) ENSP00000479110.1:p.Gly377Cys
XM_005271745.3:c.1129G>T (DDC) XP_005271802.1:p.Gly377Cys
XM_005271745.4:c.1129G>T (DDC) XP_005271802.1:p.Gly377Cys
XM_011515161.1:c.892G>T (DDC) XP_011513463.1:p.Gly298Cys
XM_011515161.2:c.1186G>T (DDC) XP_011513463.2:p.Gly396Cys