Canonical Allele Identifier: CA2682813562
Gene: DDC HGNC NCBI

Linked Data

gnomAD v4: 7-50561089-T-A
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Genomic Alleles

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

Transcript Alleles

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