Canonical Allele Identifier: CA2389966

Gene: DALRD3

Linked Data

• ClinVar Variation Id: 3080039
• ClinVar RCV Id: RCV004370883
• dbSNP Id: rs371931327
• ExAC: 3:49055487 C / T
• gnomAD v2: 3-49055487-C-T
• gnomAD v3: 3-49018054-C-T
• gnomAD v4: 3-49018054-C-T
• MyVariant Identifiers: chr3:g.49055487C>T (hg19) ; chr3:g.49018054C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49018054C>T , CM000665.2:g.49018054C>T	GRCh38
NC_000003.11:g.49055487C>T , CM000665.1:g.49055487C>T	GRCh37
NC_000003.10:g.49030491C>T	NCBI36
NG_016282.1:g.2580C>T
NG_033126.1:g.8018G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341949.9:c.430G>A MANE Select	ENSP00000344989.4:p.Asp144Asn
ENST00000313778.9:c.-72G>A	ENSP00000323265.5:n.-72G>A
ENST00000341949.8:c.430G>A	ENSP00000344989.4:p.Asp144Asn
ENST00000420952.2:c.325G>A	ENSP00000397385.2:p.Asp109Asn
ENST00000440857.5:c.-72G>A	ENSP00000403770.1:n.-72G>A
ENST00000441576.6:c.430G>A	ENSP00000410623.2:p.Asp144Asn
ENST00000460505.5:n.513G>A
ENST00000484831.5:n.437G>A
ENST00000496568.1:c.-72G>A	ENSP00000485305.1:n.-72G>A
ENST00000498794.1:n.523G>A
NM_001009996.2:c.430G>A	NP_001009996.1:p.Asp144Asn
NM_001276405.1:c.430G>A	NP_001263334.1:p.Asp144Asn
NM_018114.5:c.-72G>A	NP_060584.3:n.-72G>A
XM_005265269.3:c.430G>A	XP_005265326.1:p.Asp144Asn
XM_006713219.2:c.-72G>A	XP_006713282.1:n.-72G>A
XM_011533891.1:c.430G>A	XP_011532193.1:p.Asp144Asn
XM_011533892.1:c.-72G>A	XP_011532194.1:n.-72G>A
XM_011533893.1:c.430G>A	XP_011532195.1:p.Asp144Asn
XR_940464.1:n.455G>A
XR_940465.1:n.465G>A
XM_005265269.4:c.430G>A	XP_005265326.1:p.Asp144Asn
XM_011533891.2:c.430G>A	XP_011532193.1:p.Asp144Asn
XM_011533892.2:c.-72G>A	XP_011532194.1:n.-72G>A
XM_011533893.2:c.430G>A	XP_011532195.1:p.Asp144Asn
XM_017006723.1:c.-72G>A	XP_016862212.1:n.-72G>A
XR_001740191.2:n.450G>A
XR_940464.3:n.450G>A
NM_001009996.3:c.430G>A MANE Select	NP_001009996.1:p.Asp144Asn
NM_001276405.2:c.430G>A	NP_001263334.1:p.Asp144Asn
NM_018114.6:c.-72G>A	NP_060584.3:n.-72G>A