Canonical Allele Identifier: CA158236671

Gene: DDC

Linked Data

• dbSNP Id: rs756845816
• gnomAD v3: 7-50561089-T-G
• gnomAD v4: 7-50561089-T-G
• MyVariant Identifiers: chr7:g.50628786T>G (hg19) ; chr7:g.50561089T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50561089T>G , CM000669.2:g.50561089T>G	GRCh38
NC_000007.13:g.50628786T>G , CM000669.1:g.50628786T>G	GRCh37
NC_000007.12:g.50596280T>G	NCBI36
NG_008742.1:g.9369A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000444124.7:c.-29+4196A>C MANE Select	ENSP00000403644.2:n.-29+4196A>C
ENST00000420203.1:c.-29+2906A>C	ENSP00000408626.1:n.-29+2906A>C
ENST00000444124.6:c.-29+4196A>C	ENSP00000403644.2:n.-29+4196A>C
NM_001082971.1:c.-29+4196A>C	NP_001076440.1:n.-29+4196A>C
XM_005271745.3:c.-29+4196A>C	XP_005271802.1:n.-29+4196A>C
XM_005271745.4:c.-29+4196A>C	XP_005271802.1:n.-29+4196A>C
NM_001082971.2:c.-29+4196A>C MANE Select	NP_001076440.2:n.-29+4196A>C