Canonical Allele Identifier: CA2714495512

Gene: DDC

Linked Data

• dbSNP Id: rs2153553822

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50555501C>G , CM000669.2:g.50555501C>G	GRCh38
NC_000007.13:g.50623199C>G , CM000669.1:g.50623199C>G	GRCh37
NC_000007.12:g.50590693C>G	NCBI36
NG_008742.1:g.14956G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000444124.7:c.-29+9784G>C MANE Select	ENSP00000403644.2:n.-29+9784G>C
ENST00000357936.9:c.-29+5513G>C	ENSP00000350616.5:n.-29+5513G>C
ENST00000380984.4:c.-29+5513G>C	ENSP00000370371.4:n.-29+5513G>C
ENST00000420203.1:c.-29+8494G>C	ENSP00000408626.1:n.-29+8494G>C
ENST00000426377.5:c.-29+5513G>C	ENSP00000395069.1:n.-29+5513G>C
ENST00000444124.6:c.-29+9784G>C	ENSP00000403644.2:n.-29+9784G>C
ENST00000444733.5:c.-29+5513G>C	ENSP00000393724.1:n.-29+5513G>C
ENST00000615193.4:c.-29+5513G>C	ENSP00000484104.1:n.-29+5513G>C
ENST00000617822.4:c.-29+5513G>C	ENSP00000478385.1:n.-29+5513G>C
ENST00000622873.4:c.-29+5513G>C	ENSP00000479110.1:n.-29+5513G>C
NM_000790.3:c.-29+5513G>C	NP_000781.1:n.-29+5513G>C
NM_001082971.1:c.-29+9784G>C	NP_001076440.1:n.-29+9784G>C
NM_001242886.1:c.-29+5513G>C	NP_001229815.1:n.-29+5513G>C
NM_001242887.1:c.-29+5513G>C	NP_001229816.1:n.-29+5513G>C
NM_001242888.1:c.-29+5513G>C	NP_001229817.1:n.-29+5513G>C
NM_001242889.1:c.-29+5513G>C	NP_001229818.1:n.-29+5513G>C
NM_001242890.1:c.-29+5513G>C	NP_001229819.1:n.-29+5513G>C
XM_005271745.3:c.-29+9784G>C	XP_005271802.1:n.-29+9784G>C
XM_005271745.4:c.-29+9784G>C	XP_005271802.1:n.-29+9784G>C
NM_001082971.2:c.-29+9784G>C MANE Select	NP_001076440.2:n.-29+9784G>C
NM_000790.4:c.-29+5513G>C	NP_000781.2:n.-29+5513G>C
NM_001242888.2:c.-29+5513G>C	NP_001229817.2:n.-29+5513G>C
NM_001242890.2:c.-29+5513G>C	NP_001229819.2:n.-29+5513G>C
NM_001242886.2:c.-29+5513G>C	NP_001229815.2:n.-29+5513G>C
NM_001242887.2:c.-29+5513G>C	NP_001229816.2:n.-29+5513G>C
NM_001242889.2:c.-29+5513G>C	NP_001229818.2:n.-29+5513G>C