Canonical Allele Identifier: CA4262074

Gene: DDC FIGNL1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50470169A>G , CM000669.2:g.50470169A>G	GRCh38
NC_000007.13:g.50537867A>G , CM000669.1:g.50537867A>G	GRCh37
NC_000007.12:g.50505361A>G	NCBI36
NG_008742.1:g.100288T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001082971.2:c.1044T>C (DDC) MANE Select	NP_001076440.2:p.His348=
ENST00000444124.7:c.1044T>C (DDC) MANE Select	ENSP00000403644.2:p.His348=
NM_000790.3:c.1044T>C (DDC)	NP_000781.1:p.His348=
NM_000790.4:c.1044T>C (DDC)	NP_000781.2:p.His348=
NM_001082971.1:c.1044T>C (DDC)	NP_001076440.1:p.His348=
NM_001242886.1:c.930T>C (DDC)	NP_001229815.1:p.His310=
NM_001242886.2:c.930T>C (DDC)	NP_001229815.2:p.His310=
NM_001242887.1:c.900T>C (DDC)	NP_001229816.1:p.His300=
NM_001242887.2:c.900T>C (DDC)	NP_001229816.2:p.His300=
NM_001242888.1:c.810T>C (DDC)	NP_001229817.1:p.His270=
NM_001242888.2:c.810T>C (DDC)	NP_001229817.2:p.His270=
NM_001242889.1:c.765T>C (DDC)	NP_001229818.1:p.His255=
NM_001242889.2:c.765T>C (DDC)	NP_001229818.2:p.His255=
ENST00000357936.9:c.1044T>C (DDC)	ENSP00000350616.5:p.His348=
ENST00000426377.5:c.810T>C (DDC)	ENSP00000395069.1:p.His270=
ENST00000430300.5:c.686T>C (DDC)
ENST00000431062.5:c.765T>C (DDC)	ENSP00000399184.1:p.His255=
ENST00000444124.6:c.1044T>C (DDC)	ENSP00000403644.2:p.His348=
ENST00000444733.5:c.*145T>C (DDC)	ENSP00000393724.1:n.*145T>C
ENST00000494914.1:n.200T>C (DDC)
ENST00000613602.3:c.-10-22872T>C (FIGNL1)	ENSP00000481751.1:n.-10-22872T>C
ENST00000615193.4:c.765T>C (DDC)	ENSP00000484104.1:p.His255=
ENST00000617822.4:c.900T>C (DDC)	ENSP00000478385.1:p.His300=
ENST00000622873.4:c.930T>C (DDC)	ENSP00000479110.1:p.His310=
XM_005271745.3:c.930T>C (DDC)	XP_005271802.1:p.His310=
XM_005271745.4:c.930T>C (DDC)	XP_005271802.1:p.His310=
XM_011515161.1:c.693T>C (DDC)	XP_011513463.1:p.His231=
XM_011515161.2:c.987T>C (DDC)	XP_011513463.2:p.His329=