Canonical Allele Identifier: CA2682813546

Gene: DDC

Linked Data

• gnomAD v4: 7-50561059-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50561059C>T , CM000669.2:g.50561059C>T	GRCh38
NC_000007.13:g.50628756C>T , CM000669.1:g.50628756C>T	GRCh37
NC_000007.12:g.50596250C>T	NCBI36
NG_008742.1:g.9399G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000444124.7:c.-29+4226G>A MANE Select	ENSP00000403644.2:n.-29+4226G>A
ENST00000420203.1:c.-29+2936G>A	ENSP00000408626.1:n.-29+2936G>A
ENST00000444124.6:c.-29+4226G>A	ENSP00000403644.2:n.-29+4226G>A
ENST00000615193.4:c.-74G>A	ENSP00000484104.1:n.-74G>A
ENST00000617822.4:c.-74G>A	ENSP00000478385.1:n.-74G>A
ENST00000622873.4:c.-74G>A	ENSP00000479110.1:n.-74G>A
NM_000790.3:c.-74G>A	NP_000781.1:n.-74G>A
NM_001082971.1:c.-29+4226G>A	NP_001076440.1:n.-29+4226G>A
NM_001242886.1:c.-74G>A	NP_001229815.1:n.-74G>A
NM_001242887.1:c.-74G>A	NP_001229816.1:n.-74G>A
NM_001242888.1:c.-74G>A	NP_001229817.1:n.-74G>A
NM_001242889.1:c.-74G>A	NP_001229818.1:n.-74G>A
NM_001242890.1:c.-74G>A	NP_001229819.1:n.-74G>A
XM_005271745.3:c.-29+4226G>A	XP_005271802.1:n.-29+4226G>A
XM_005271745.4:c.-29+4226G>A	XP_005271802.1:n.-29+4226G>A
NM_001082971.2:c.-29+4226G>A MANE Select	NP_001076440.2:n.-29+4226G>A
NM_000790.4:c.-74G>A	NP_000781.2:n.-74G>A
NM_001242888.2:c.-74G>A	NP_001229817.2:n.-74G>A
NM_001242890.2:c.-74G>A	NP_001229819.2:n.-74G>A
NM_001242886.2:c.-74G>A	NP_001229815.2:n.-74G>A
NM_001242887.2:c.-74G>A	NP_001229816.2:n.-74G>A
NM_001242889.2:c.-74G>A	NP_001229818.2:n.-74G>A