Canonical Allele Identifier: CA4262481

Gene: DDC

Linked Data

• dbSNP Id: rs760546215
• ExAC: 7:50611624 C / T
• gnomAD v2: 7-50611624-C-T
• gnomAD v4: 7-50543926-C-T
• MyVariant Identifiers: chr7:g.50611624C>T (hg19) ; chr7:g.50543926C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50543926C>T , CM000669.2:g.50543926C>T	GRCh38
NC_000007.13:g.50611624C>T , CM000669.1:g.50611624C>T	GRCh37
NC_000007.12:g.50579118C>T	NCBI36
NG_008742.1:g.26531G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000444124.7:c.160G>A MANE Select	ENSP00000403644.2:p.Glu54Lys
ENST00000357936.9:c.160G>A	ENSP00000350616.5:p.Glu54Lys
ENST00000380984.4:c.160G>A	ENSP00000370371.4:p.Glu54Lys
ENST00000426377.5:c.160G>A	ENSP00000395069.1:p.Glu54Lys
ENST00000430300.5:c.57G>A
ENST00000431062.5:c.160G>A	ENSP00000399184.1:p.Glu54Lys
ENST00000444124.6:c.160G>A	ENSP00000403644.2:p.Glu54Lys
ENST00000444733.5:c.160G>A	ENSP00000393724.1:p.Glu54Lys
ENST00000615193.4:c.160G>A	ENSP00000484104.1:p.Glu54Lys
ENST00000617822.4:c.160G>A	ENSP00000478385.1:p.Glu54Lys
ENST00000622873.4:c.160G>A	ENSP00000479110.1:p.Glu54Lys
NM_000790.3:c.160G>A	NP_000781.1:p.Glu54Lys
NM_001082971.1:c.160G>A	NP_001076440.1:p.Glu54Lys
NM_001242886.1:c.160G>A	NP_001229815.1:p.Glu54Lys
NM_001242887.1:c.160G>A	NP_001229816.1:p.Glu54Lys
NM_001242888.1:c.160G>A	NP_001229817.1:p.Glu54Lys
NM_001242889.1:c.160G>A	NP_001229818.1:p.Glu54Lys
NM_001242890.1:c.160G>A	NP_001229819.1:p.Glu54Lys
XM_005271745.3:c.160G>A	XP_005271802.1:p.Glu54Lys
XM_005271745.4:c.160G>A	XP_005271802.1:p.Glu54Lys
NM_001082971.2:c.160G>A MANE Select	NP_001076440.2:p.Glu54Lys
NM_000790.4:c.160G>A	NP_000781.2:p.Glu54Lys
NM_001242888.2:c.160G>A	NP_001229817.2:p.Glu54Lys
NM_001242890.2:c.160G>A	NP_001229819.2:p.Glu54Lys
NM_001242886.2:c.160G>A	NP_001229815.2:p.Glu54Lys
NM_001242887.2:c.160G>A	NP_001229816.2:p.Glu54Lys
NM_001242889.2:c.160G>A	NP_001229818.2:p.Glu54Lys