Canonical Allele Identifier: CA367531503

Gene: DDC

Linked Data

• ClinVar Variation Id: 1395930
• ClinVar RCV Id: RCV001919831
• dbSNP Id: rs2153550391
• gnomAD v4: 7-50543917-T-C
• MyVariant Identifiers: chr7:g.50611615T>C (hg19) ; chr7:g.50543917T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50543917T>C , CM000669.2:g.50543917T>C	GRCh38
NC_000007.13:g.50611615T>C , CM000669.1:g.50611615T>C	GRCh37
NC_000007.12:g.50579109T>C	NCBI36
NG_008742.1:g.26540A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000444124.7:c.169A>G MANE Select	ENSP00000403644.2:p.Ile57Val
ENST00000357936.9:c.169A>G	ENSP00000350616.5:p.Ile57Val
ENST00000380984.4:c.169A>G	ENSP00000370371.4:p.Ile57Val
ENST00000426377.5:c.169A>G	ENSP00000395069.1:p.Ile57Val
ENST00000430300.5:c.66A>G
ENST00000431062.5:c.169A>G	ENSP00000399184.1:p.Ile57Val
ENST00000444124.6:c.169A>G	ENSP00000403644.2:p.Ile57Val
ENST00000444733.5:c.169A>G	ENSP00000393724.1:p.Ile57Val
ENST00000615193.4:c.169A>G	ENSP00000484104.1:p.Ile57Val
ENST00000617822.4:c.169A>G	ENSP00000478385.1:p.Ile57Val
ENST00000622873.4:c.169A>G	ENSP00000479110.1:p.Ile57Val
NM_000790.3:c.169A>G	NP_000781.1:p.Ile57Val
NM_001082971.1:c.169A>G	NP_001076440.1:p.Ile57Val
NM_001242886.1:c.169A>G	NP_001229815.1:p.Ile57Val
NM_001242887.1:c.169A>G	NP_001229816.1:p.Ile57Val
NM_001242888.1:c.169A>G	NP_001229817.1:p.Ile57Val
NM_001242889.1:c.169A>G	NP_001229818.1:p.Ile57Val
NM_001242890.1:c.169A>G	NP_001229819.1:p.Ile57Val
XM_005271745.3:c.169A>G	XP_005271802.1:p.Ile57Val
XM_005271745.4:c.169A>G	XP_005271802.1:p.Ile57Val
NM_001082971.2:c.169A>G MANE Select	NP_001076440.2:p.Ile57Val
NM_000790.4:c.169A>G	NP_000781.2:p.Ile57Val
NM_001242888.2:c.169A>G	NP_001229817.2:p.Ile57Val
NM_001242890.2:c.169A>G	NP_001229819.2:p.Ile57Val
NM_001242886.2:c.169A>G	NP_001229815.2:p.Ile57Val
NM_001242887.2:c.169A>G	NP_001229816.2:p.Ile57Val
NM_001242889.2:c.169A>G	NP_001229818.2:p.Ile57Val