Canonical Allele Identifier: CA367532085
Gene: DDC HGNC NCBI

Linked Data

ClinVar Variation Id: 427155
ClinVar RCV Id: RCV000489419
dbSNP Id: rs1085307991
gnomAD v4: 7-50544015-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50544015A>G , CM000669.2:g.50544015A>G GRCh38
NC_000007.13:g.50611713A>G , CM000669.1:g.50611713A>G GRCh37
NC_000007.12:g.50579207A>G NCBI36
NG_008742.1:g.26442T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000444124.7:c.71T>C MANE Select ENSP00000403644.2:p.Ile24Thr
ENST00000357936.9:c.71T>C ENSP00000350616.5:p.Ile24Thr
ENST00000380984.4:c.71T>C ENSP00000370371.4:p.Ile24Thr
ENST00000420203.1:c.71T>C ENSP00000408626.1:p.Ile24Thr
ENST00000426377.5:c.71T>C ENSP00000395069.1:p.Ile24Thr
ENST00000431062.5:c.71T>C ENSP00000399184.1:p.Ile24Thr
ENST00000444124.6:c.71T>C ENSP00000403644.2:p.Ile24Thr
ENST00000444733.5:c.71T>C ENSP00000393724.1:p.Ile24Thr
ENST00000615193.4:c.71T>C ENSP00000484104.1:p.Ile24Thr
ENST00000617822.4:c.71T>C ENSP00000478385.1:p.Ile24Thr
ENST00000622873.4:c.71T>C ENSP00000479110.1:p.Ile24Thr
NM_000790.3:c.71T>C NP_000781.1:p.Ile24Thr
NM_001082971.1:c.71T>C NP_001076440.1:p.Ile24Thr
NM_001242886.1:c.71T>C NP_001229815.1:p.Ile24Thr
NM_001242887.1:c.71T>C NP_001229816.1:p.Ile24Thr
NM_001242888.1:c.71T>C NP_001229817.1:p.Ile24Thr
NM_001242889.1:c.71T>C NP_001229818.1:p.Ile24Thr
NM_001242890.1:c.71T>C NP_001229819.1:p.Ile24Thr
XM_005271745.3:c.71T>C XP_005271802.1:p.Ile24Thr
XM_005271745.4:c.71T>C XP_005271802.1:p.Ile24Thr
NM_001082971.2:c.71T>C MANE Select NP_001076440.2:p.Ile24Thr
NM_000790.4:c.71T>C NP_000781.2:p.Ile24Thr
NM_001242888.2:c.71T>C NP_001229817.2:p.Ile24Thr
NM_001242890.2:c.71T>C NP_001229819.2:p.Ile24Thr
NM_001242886.2:c.71T>C NP_001229815.2:p.Ile24Thr
NM_001242887.2:c.71T>C NP_001229816.2:p.Ile24Thr
NM_001242889.2:c.71T>C NP_001229818.2:p.Ile24Thr