Canonical Allele Identifier: CA10626217
Gene: DDC HGNC NCBI

Linked Data

ClinVar Variation Id: 360447
ClinVar RCV Id: RCV000277742
dbSNP Id: rs539605396
gnomAD v3: 7-50561063-G-A
gnomAD v4: 7-50561063-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50561063G>A , CM000669.2:g.50561063G>A GRCh38
NC_000007.13:g.50628760G>A , CM000669.1:g.50628760G>A GRCh37
NC_000007.12:g.50596254G>A NCBI36
NG_008742.1:g.9395C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000444124.7:c.-29+4222C>T MANE Select ENSP00000403644.2:n.-29+4222C>T
ENST00000420203.1:c.-29+2932C>T ENSP00000408626.1:n.-29+2932C>T
ENST00000444124.6:c.-29+4222C>T ENSP00000403644.2:n.-29+4222C>T
ENST00000615193.4:c.-78C>T ENSP00000484104.1:n.-78C>T
ENST00000617822.4:c.-78C>T ENSP00000478385.1:n.-78C>T
ENST00000622873.4:c.-78C>T ENSP00000479110.1:n.-78C>T
NM_000790.3:c.-78C>T NP_000781.1:n.-78C>T
NM_001082971.1:c.-29+4222C>T NP_001076440.1:n.-29+4222C>T
NM_001242886.1:c.-78C>T NP_001229815.1:n.-78C>T
NM_001242887.1:c.-78C>T NP_001229816.1:n.-78C>T
NM_001242888.1:c.-78C>T NP_001229817.1:n.-78C>T
NM_001242889.1:c.-78C>T NP_001229818.1:n.-78C>T
NM_001242890.1:c.-78C>T NP_001229819.1:n.-78C>T
XM_005271745.3:c.-29+4222C>T XP_005271802.1:n.-29+4222C>T
XM_005271745.4:c.-29+4222C>T XP_005271802.1:n.-29+4222C>T
NM_001082971.2:c.-29+4222C>T MANE Select NP_001076440.2:n.-29+4222C>T
NM_000790.4:c.-78C>T NP_000781.2:n.-78C>T
NM_001242888.2:c.-78C>T NP_001229817.2:n.-78C>T
NM_001242890.2:c.-78C>T NP_001229819.2:n.-78C>T
NM_001242886.2:c.-78C>T NP_001229815.2:n.-78C>T
NM_001242887.2:c.-78C>T NP_001229816.2:n.-78C>T
NM_001242889.2:c.-78C>T NP_001229818.2:n.-78C>T