Canonical Allele Identifier: CA2389928
Gene: DALRD3 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49017838C>G , CM000665.2:g.49017838C>G GRCh38
NC_000003.11:g.49055271C>G , CM000665.1:g.49055271C>G GRCh37
NC_000003.10:g.49030275C>G NCBI36
NG_016282.1:g.2364C>G
NG_029915.1:g.15635C>G
NG_033126.1:g.8234G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000341949.9:c.493G>C MANE Select ENSP00000344989.4:p.Asp165His
ENST00000313778.9:c.-9G>C ENSP00000323265.5:n.-9G>C
ENST00000341949.8:c.493G>C ENSP00000344989.4:p.Asp165His
ENST00000420952.2:c.388G>C ENSP00000397385.2:p.Asp130His
ENST00000440857.5:c.-9G>C ENSP00000403770.1:n.-9G>C
ENST00000441576.6:c.493G>C ENSP00000410623.2:p.Asp165His
ENST00000460505.5:n.576G>C
ENST00000467457.5:n.184G>C
ENST00000484831.5:n.500G>C
ENST00000496568.1:c.-9G>C ENSP00000485305.1:n.-9G>C
ENST00000498794.1:n.739G>C
NM_001009996.2:c.493G>C NP_001009996.1:p.Asp165His
NM_001276405.1:c.493G>C NP_001263334.1:p.Asp165His
NM_018114.5:c.-9G>C NP_060584.3:n.-9G>C
XM_005265269.3:c.493G>C XP_005265326.1:p.Asp165His
XM_006713219.2:c.-9G>C XP_006713282.1:n.-9G>C
XM_011533891.1:c.493G>C XP_011532193.1:p.Asp165His
XM_011533892.1:c.-9G>C XP_011532194.1:n.-9G>C
XM_011533893.1:c.493G>C XP_011532195.1:p.Asp165His
XR_940464.1:n.518G>C
XR_940465.1:n.528G>C
XM_005265269.4:c.493G>C XP_005265326.1:p.Asp165His
XM_011533891.2:c.493G>C XP_011532193.1:p.Asp165His
XM_011533892.2:c.-9G>C XP_011532194.1:n.-9G>C
XM_011533893.2:c.493G>C XP_011532195.1:p.Asp165His
XM_017006723.1:c.-9G>C XP_016862212.1:n.-9G>C
XR_001740191.2:n.513G>C
XR_940464.3:n.513G>C
NM_001009996.3:c.493G>C MANE Select NP_001009996.1:p.Asp165His
NM_001276405.2:c.493G>C NP_001263334.1:p.Asp165His
NM_018114.6:c.-9G>C NP_060584.3:n.-9G>C