Canonical Allele Identifier: CA1706622918

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50476628T= , CM000669.2:g.50476628T= GRCh38
NC_000007.13:g.50544326T= , CM000669.1:g.50544326T= GRCh37
NC_000007.12:g.50511820T= NCBI36
NG_008742.1:g.93829A=

Transcript Alleles

HGVS Amino-acid change
ENST00000444124.7:c.1037A= (DDC) MANE Select ENSP00000403644.2:p.Tyr346=
ENST00000357936.9:c.1037A= (DDC) ENSP00000350616.5:p.Tyr346=
ENST00000426377.5:c.803A= (DDC) ENSP00000395069.1:p.Tyr268=
ENST00000430300.5:c.679A= (DDC)
ENST00000431062.5:c.758A= (DDC) ENSP00000399184.1:p.Tyr253=
ENST00000444124.6:c.1037A= (DDC) ENSP00000403644.2:p.Tyr346=
ENST00000444733.5:c.*138A= (DDC) ENSP00000393724.1:n.*138A=
ENST00000494914.1:n.193A= (DDC)
ENST00000613602.3:c.-10-29331A= (FIGNL1) ENSP00000481751.1:n.-10-29331A=
ENST00000615193.4:c.758A= (DDC) ENSP00000484104.1:p.Tyr253=
ENST00000617822.4:c.893A= (DDC) ENSP00000478385.1:p.Tyr298=
ENST00000622873.4:c.923A= (DDC) ENSP00000479110.1:p.Tyr308=
NM_000790.3:c.1037A= (DDC) NP_000781.1:p.Tyr346=
NM_001082971.1:c.1037A= (DDC) NP_001076440.1:p.Tyr346=
NM_001242886.1:c.923A= (DDC) NP_001229815.1:p.Tyr308=
NM_001242887.1:c.893A= (DDC) NP_001229816.1:p.Tyr298=
NM_001242888.1:c.803A= (DDC) NP_001229817.1:p.Tyr268=
NM_001242889.1:c.758A= (DDC) NP_001229818.1:p.Tyr253=
XM_005271745.3:c.923A= (DDC) XP_005271802.1:p.Tyr308=
XM_011515161.1:c.686A= (DDC) XP_011513463.1:p.Tyr229=
XM_005271745.4:c.923A= (DDC) XP_005271802.1:p.Tyr308=
XM_011515161.2:c.980A= (DDC) XP_011513463.2:p.Tyr327=
NM_001082971.2:c.1037A= (DDC) MANE Select NP_001076440.2:p.Tyr346=
NM_000790.4:c.1037A= (DDC) NP_000781.2:p.Tyr346=
NM_001242888.2:c.803A= (DDC) NP_001229817.2:p.Tyr268=
NM_001242886.2:c.923A= (DDC) NP_001229815.2:p.Tyr308=
NM_001242887.2:c.893A= (DDC) NP_001229816.2:p.Tyr298=
NM_001242889.2:c.758A= (DDC) NP_001229818.2:p.Tyr253=