Canonical Allele Identifier: CA2682813555

Gene: DDC

Linked Data

• gnomAD v4: 7-50561076-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50561076G>T , CM000669.2:g.50561076G>T	GRCh38
NC_000007.13:g.50628773G>T , CM000669.1:g.50628773G>T	GRCh37
NC_000007.12:g.50596267G>T	NCBI36
NG_008742.1:g.9382C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000444124.7:c.-29+4209C>A MANE Select	ENSP00000403644.2:n.-29+4209C>A
ENST00000420203.1:c.-29+2919C>A	ENSP00000408626.1:n.-29+2919C>A
ENST00000444124.6:c.-29+4209C>A	ENSP00000403644.2:n.-29+4209C>A
NM_001082971.1:c.-29+4209C>A	NP_001076440.1:n.-29+4209C>A
XM_005271745.3:c.-29+4209C>A	XP_005271802.1:n.-29+4209C>A
XM_005271745.4:c.-29+4209C>A	XP_005271802.1:n.-29+4209C>A
NM_001082971.2:c.-29+4209C>A MANE Select	NP_001076440.2:n.-29+4209C>A