Canonical Allele Identifier: CA1101201960

Gene: DDC

Linked Data

• dbSNP Id: rs1213250027
• gnomAD v3: 7-50555496-T-C
• gnomAD v4: 7-50555496-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50555496T>C , CM000669.2:g.50555496T>C	GRCh38
NC_000007.13:g.50623194T>C , CM000669.1:g.50623194T>C	GRCh37
NC_000007.12:g.50590688T>C	NCBI36
NG_008742.1:g.14961A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000444124.7:c.-29+9789A>G MANE Select	ENSP00000403644.2:n.-29+9789A>G
ENST00000357936.9:c.-29+5518A>G	ENSP00000350616.5:n.-29+5518A>G
ENST00000380984.4:c.-29+5518A>G	ENSP00000370371.4:n.-29+5518A>G
ENST00000420203.1:c.-29+8499A>G	ENSP00000408626.1:n.-29+8499A>G
ENST00000426377.5:c.-29+5518A>G	ENSP00000395069.1:n.-29+5518A>G
ENST00000444124.6:c.-29+9789A>G	ENSP00000403644.2:n.-29+9789A>G
ENST00000444733.5:c.-29+5518A>G	ENSP00000393724.1:n.-29+5518A>G
ENST00000615193.4:c.-29+5518A>G	ENSP00000484104.1:n.-29+5518A>G
ENST00000617822.4:c.-29+5518A>G	ENSP00000478385.1:n.-29+5518A>G
ENST00000622873.4:c.-29+5518A>G	ENSP00000479110.1:n.-29+5518A>G
NM_000790.3:c.-29+5518A>G	NP_000781.1:n.-29+5518A>G
NM_001082971.1:c.-29+9789A>G	NP_001076440.1:n.-29+9789A>G
NM_001242886.1:c.-29+5518A>G	NP_001229815.1:n.-29+5518A>G
NM_001242887.1:c.-29+5518A>G	NP_001229816.1:n.-29+5518A>G
NM_001242888.1:c.-29+5518A>G	NP_001229817.1:n.-29+5518A>G
NM_001242889.1:c.-29+5518A>G	NP_001229818.1:n.-29+5518A>G
NM_001242890.1:c.-29+5518A>G	NP_001229819.1:n.-29+5518A>G
XM_005271745.3:c.-29+9789A>G	XP_005271802.1:n.-29+9789A>G
XM_005271745.4:c.-29+9789A>G	XP_005271802.1:n.-29+9789A>G
NM_001082971.2:c.-29+9789A>G MANE Select	NP_001076440.2:n.-29+9789A>G
NM_000790.4:c.-29+5518A>G	NP_000781.2:n.-29+5518A>G
NM_001242888.2:c.-29+5518A>G	NP_001229817.2:n.-29+5518A>G
NM_001242890.2:c.-29+5518A>G	NP_001229819.2:n.-29+5518A>G
NM_001242886.2:c.-29+5518A>G	NP_001229815.2:n.-29+5518A>G
NM_001242887.2:c.-29+5518A>G	NP_001229816.2:n.-29+5518A>G
NM_001242889.2:c.-29+5518A>G	NP_001229818.2:n.-29+5518A>G