Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50529259C= , CM000669.2:g.50529259C=	GRCh38
NC_000007.13:g.50596957C= , CM000669.1:g.50596957C=	GRCh37
NC_000007.12:g.50564451C=	NCBI36
NG_008742.1:g.41198G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000444124.7:c.519G= (DDC) MANE Select	ENSP00000403644.2:p.Glu173=
ENST00000357936.9:c.519G= (DDC)	ENSP00000350616.5:p.Glu173=
ENST00000380984.4:c.519G= (DDC)	ENSP00000370371.4:p.Glu173=
ENST00000426377.5:c.285G= (DDC)	ENSP00000395069.1:p.Glu95=
ENST00000430300.5:c.213-979G= (DDC)
ENST00000431062.5:c.435+8601G= (DDC)	ENSP00000399184.1:n.435+8601G=
ENST00000444124.6:c.519G= (DDC)	ENSP00000403644.2:p.Glu173=
ENST00000444733.5:c.405G= (DDC)	ENSP00000393724.1:p.Glu135=
ENST00000489162.1:n.318G= (DDC)
ENST00000613602.3:c.-11+13259G= (FIGNL1)	ENSP00000481751.1:n.-11+13259G=
ENST00000615193.4:c.435+8601G= (DDC)	ENSP00000484104.1:n.435+8601G=
ENST00000617822.4:c.519G= (DDC)	ENSP00000478385.1:p.Glu173=
ENST00000622873.4:c.405G= (DDC)	ENSP00000479110.1:p.Glu135=
NM_000790.3:c.519G= (DDC)	NP_000781.1:p.Glu173=
NM_001082971.1:c.519G= (DDC)	NP_001076440.1:p.Glu173=
NM_001242886.1:c.405G= (DDC)	NP_001229815.1:p.Glu135=
NM_001242887.1:c.519G= (DDC)	NP_001229816.1:p.Glu173=
NM_001242888.1:c.285G= (DDC)	NP_001229817.1:p.Glu95=
NM_001242889.1:c.435+8601G= (DDC)	NP_001229818.1:n.435+8601G=
NM_001242890.1:c.519G= (DDC)	NP_001229819.1:p.Glu173=
XM_005271745.3:c.405G= (DDC)	XP_005271802.1:p.Glu135=
XM_011515161.1:c.168G= (DDC)	XP_011513463.1:p.Glu56=
XM_005271745.4:c.405G= (DDC)	XP_005271802.1:p.Glu135=
XM_011515161.2:c.462G= (DDC)	XP_011513463.2:p.Glu154=
NM_001082971.2:c.519G= (DDC) MANE Select	NP_001076440.2:p.Glu173=
NM_000790.4:c.519G= (DDC)	NP_000781.2:p.Glu173=
NM_001242888.2:c.285G= (DDC)	NP_001229817.2:p.Glu95=
NM_001242890.2:c.519G= (DDC)	NP_001229819.2:p.Glu173=
NM_001242886.2:c.405G= (DDC)	NP_001229815.2:p.Glu135=
NM_001242887.2:c.519G= (DDC)	NP_001229816.2:p.Glu173=
NM_001242889.2:c.435+8601G= (DDC)	NP_001229818.2:n.435+8601G=