Canonical Allele Identifier: CA158234582

Gene: DDC

Linked Data

• dbSNP Id: rs566769442
• gnomAD v2: 7-50611885-G-A
• gnomAD v3: 7-50544187-G-A
• gnomAD v4: 7-50544187-G-A
• MyVariant Identifiers: chr7:g.50611885G>A (hg19) ; chr7:g.50544187G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50544187G>A , CM000669.2:g.50544187G>A	GRCh38
NC_000007.13:g.50611885G>A , CM000669.1:g.50611885G>A	GRCh37
NC_000007.12:g.50579379G>A	NCBI36
NG_008742.1:g.26270C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000444124.7:c.-28-74C>T MANE Select	ENSP00000403644.2:n.-28-74C>T
ENST00000357936.9:c.-28-74C>T	ENSP00000350616.5:n.-28-74C>T
ENST00000380984.4:c.-28-74C>T	ENSP00000370371.4:n.-28-74C>T
ENST00000420203.1:c.-28-74C>T	ENSP00000408626.1:n.-28-74C>T
ENST00000426377.5:c.-28-74C>T	ENSP00000395069.1:n.-28-74C>T
ENST00000444124.6:c.-28-74C>T	ENSP00000403644.2:n.-28-74C>T
ENST00000444733.5:c.-28-74C>T	ENSP00000393724.1:n.-28-74C>T
ENST00000615193.4:c.-28-74C>T	ENSP00000484104.1:n.-28-74C>T
ENST00000617822.4:c.-28-74C>T	ENSP00000478385.1:n.-28-74C>T
ENST00000622873.4:c.-28-74C>T	ENSP00000479110.1:n.-28-74C>T
NM_000790.3:c.-28-74C>T	NP_000781.1:n.-28-74C>T
NM_001082971.1:c.-28-74C>T	NP_001076440.1:n.-28-74C>T
NM_001242886.1:c.-28-74C>T	NP_001229815.1:n.-28-74C>T
NM_001242887.1:c.-28-74C>T	NP_001229816.1:n.-28-74C>T
NM_001242888.1:c.-28-74C>T	NP_001229817.1:n.-28-74C>T
NM_001242889.1:c.-28-74C>T	NP_001229818.1:n.-28-74C>T
NM_001242890.1:c.-28-74C>T	NP_001229819.1:n.-28-74C>T
XM_005271745.3:c.-28-74C>T	XP_005271802.1:n.-28-74C>T
XM_005271745.4:c.-28-74C>T	XP_005271802.1:n.-28-74C>T
NM_001082971.2:c.-28-74C>T MANE Select	NP_001076440.2:n.-28-74C>T
NM_000790.4:c.-28-74C>T	NP_000781.2:n.-28-74C>T
NM_001242888.2:c.-28-74C>T	NP_001229817.2:n.-28-74C>T
NM_001242890.2:c.-28-74C>T	NP_001229819.2:n.-28-74C>T
NM_001242886.2:c.-28-74C>T	NP_001229815.2:n.-28-74C>T
NM_001242887.2:c.-28-74C>T	NP_001229816.2:n.-28-74C>T
NM_001242889.2:c.-28-74C>T	NP_001229818.2:n.-28-74C>T