Canonical Allele Identifier: CA2597386949
Gene: DDC HGNC NCBI

Linked Data

dbSNP Id: rs1371853315
gnomAD v3: 7-50561082-G-A
gnomAD v4: 7-50561082-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50561082G>A , CM000669.2:g.50561082G>A GRCh38
NC_000007.13:g.50628779G>A , CM000669.1:g.50628779G>A GRCh37
NC_000007.12:g.50596273G>A NCBI36
NG_008742.1:g.9376C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000444124.7:c.-29+4203C>T MANE Select ENSP00000403644.2:n.-29+4203C>T
ENST00000420203.1:c.-29+2913C>T ENSP00000408626.1:n.-29+2913C>T
ENST00000444124.6:c.-29+4203C>T ENSP00000403644.2:n.-29+4203C>T
NM_001082971.1:c.-29+4203C>T NP_001076440.1:n.-29+4203C>T
XM_005271745.3:c.-29+4203C>T XP_005271802.1:n.-29+4203C>T
XM_005271745.4:c.-29+4203C>T XP_005271802.1:n.-29+4203C>T
NM_001082971.2:c.-29+4203C>T MANE Select NP_001076440.2:n.-29+4203C>T
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