Canonical Allele Identifier: CA454931775

Linked Data

MyVariant Identifiers: chr7:g.50537843T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50470145T>C , CM000669.2:g.50470145T>C GRCh38
NC_000007.13:g.50537843T>C , CM000669.1:g.50537843T>C GRCh37
NC_000007.12:g.50505337T>C NCBI36
NG_008742.1:g.100312A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000444124.7:c.1068A>G (DDC) MANE Select ENSP00000403644.2:p.Arg356=
ENST00000357936.9:c.1068A>G (DDC) ENSP00000350616.5:p.Arg356=
ENST00000426377.5:c.834A>G (DDC) ENSP00000395069.1:p.Arg278=
ENST00000430300.5:c.710A>G (DDC)
ENST00000431062.5:c.789A>G (DDC) ENSP00000399184.1:p.Arg263=
ENST00000444124.6:c.1068A>G (DDC) ENSP00000403644.2:p.Arg356=
ENST00000444733.5:c.*169A>G (DDC) ENSP00000393724.1:n.*169A>G
ENST00000494914.1:n.224A>G (DDC)
ENST00000613602.3:c.-10-22848A>G (FIGNL1) ENSP00000481751.1:n.-10-22848A>G
ENST00000615193.4:c.789A>G (DDC) ENSP00000484104.1:p.Arg263=
ENST00000617822.4:c.924A>G (DDC) ENSP00000478385.1:p.Arg308=
ENST00000622873.4:c.954A>G (DDC) ENSP00000479110.1:p.Arg318=
NM_000790.3:c.1068A>G (DDC) NP_000781.1:p.Arg356=
NM_001082971.1:c.1068A>G (DDC) NP_001076440.1:p.Arg356=
NM_001242886.1:c.954A>G (DDC) NP_001229815.1:p.Arg318=
NM_001242887.1:c.924A>G (DDC) NP_001229816.1:p.Arg308=
NM_001242888.1:c.834A>G (DDC) NP_001229817.1:p.Arg278=
NM_001242889.1:c.789A>G (DDC) NP_001229818.1:p.Arg263=
XM_005271745.3:c.954A>G (DDC) XP_005271802.1:p.Arg318=
XM_011515161.1:c.717A>G (DDC) XP_011513463.1:p.Arg239=
XM_005271745.4:c.954A>G (DDC) XP_005271802.1:p.Arg318=
XM_011515161.2:c.1011A>G (DDC) XP_011513463.2:p.Arg337=
NM_001082971.2:c.1068A>G (DDC) MANE Select NP_001076440.2:p.Arg356=
NM_000790.4:c.1068A>G (DDC) NP_000781.2:p.Arg356=
NM_001242888.2:c.834A>G (DDC) NP_001229817.2:p.Arg278=
NM_001242886.2:c.954A>G (DDC) NP_001229815.2:p.Arg318=
NM_001242887.2:c.924A>G (DDC) NP_001229816.2:p.Arg308=
NM_001242889.2:c.789A>G (DDC) NP_001229818.2:p.Arg263=