Canonical Allele Identifier: CA352710593

Gene: DALRD3

Linked Data

• ClinVar Variation Id: 1342485
• ClinVar RCV Id: RCV001839236
• dbSNP Id: rs1466251286
• gnomAD v4: 3-49016262-G-A
• MyVariant Identifiers: chr3:g.49053695G>A (hg19) ; chr3:g.49016262G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49016262G>A , CM000665.2:g.49016262G>A	GRCh38
NC_000003.11:g.49053695G>A , CM000665.1:g.49053695G>A	GRCh37
NC_000003.10:g.49028699G>A	NCBI36
NG_016282.1:g.788G>A
NG_029915.1:g.14059G>A
NG_033126.1:g.9810C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341949.9:c.1225C>T MANE Select	ENSP00000344989.4:p.Arg409Cys
ENST00000313778.9:c.724C>T	ENSP00000323265.5:p.Arg242Cys
ENST00000341949.8:c.1225C>T	ENSP00000344989.4:p.Arg409Cys
ENST00000438585.5:c.162C>T
ENST00000440857.5:c.724C>T	ENSP00000403770.1:p.Arg242Cys
ENST00000441576.6:c.1225C>T	ENSP00000410623.2:p.Arg409Cys
ENST00000460505.5:n.1308C>T
ENST00000467457.5:n.854C>T
ENST00000472331.5:n.401C>T
ENST00000481001.5:n.22C>T
ENST00000484831.5:n.1309C>T
ENST00000498498.5:n.427C>T
ENST00000498794.1:n.2216C>T
NM_001009996.2:c.1225C>T	NP_001009996.1:p.Arg409Cys
NM_001276405.1:c.1225C>T	NP_001263334.1:p.Arg409Cys
NM_018114.5:c.724C>T	NP_060584.3:p.Arg242Cys
XM_005265269.3:c.1225C>T	XP_005265326.1:p.Arg409Cys
XM_006713219.2:c.724C>T	XP_006713282.1:p.Arg242Cys
XM_011533891.1:c.1225C>T	XP_011532193.1:p.Arg409Cys
XM_011533892.1:c.724C>T	XP_011532194.1:p.Arg242Cys
XM_011533893.1:c.*107C>T	XP_011532195.1:n.*107C>T
XR_940464.1:n.1188C>T
XR_940465.1:n.1198C>T
XM_005265269.4:c.1225C>T	XP_005265326.1:p.Arg409Cys
XM_011533891.2:c.1225C>T	XP_011532193.1:p.Arg409Cys
XM_011533892.2:c.724C>T	XP_011532194.1:p.Arg242Cys
XM_011533893.2:c.*107C>T	XP_011532195.1:n.*107C>T
XM_017006723.1:c.724C>T	XP_016862212.1:p.Arg242Cys
XR_001740191.2:n.1183C>T
XR_940464.3:n.1183C>T
NM_001009996.3:c.1225C>T MANE Select	NP_001009996.1:p.Arg409Cys
NM_001276405.2:c.1225C>T	NP_001263334.1:p.Arg409Cys
NM_018114.6:c.724C>T	NP_060584.3:p.Arg242Cys