Canonical Allele Identifier: CA352709361

Gene: DALRD3

Linked Data

• ClinVar Variation Id: 2494249
• ClinVar RCV Id: RCV004280979
• MyVariant Identifiers: chr3:g.49053503A>C (hg19) ; chr3:g.49016070A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49016070A>C , CM000665.2:g.49016070A>C	GRCh38
NC_000003.11:g.49053503A>C , CM000665.1:g.49053503A>C	GRCh37
NC_000003.10:g.49028507A>C	NCBI36
NG_016282.1:g.596A>C
NG_029915.1:g.13867A>C
NG_033126.1:g.10002T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341949.9:c.1346T>G MANE Select	ENSP00000344989.4:p.Leu449Arg
ENST00000313778.9:c.845T>G	ENSP00000323265.5:p.Leu282Arg
ENST00000341949.8:c.1346T>G	ENSP00000344989.4:p.Leu449Arg
ENST00000438585.5:c.283T>G
ENST00000440857.5:c.845T>G	ENSP00000403770.1:p.Leu282Arg
ENST00000441576.6:c.1330-10T>G	ENSP00000410623.2:n.1330-10T>G
ENST00000460505.5:n.1500T>G
ENST00000467457.5:n.1046T>G
ENST00000472331.5:n.593T>G
ENST00000481001.5:n.214T>G
ENST00000484831.5:n.1430T>G
ENST00000498498.5:n.619T>G
ENST00000498794.1:n.2408T>G
NM_001009996.2:c.1346T>G	NP_001009996.1:p.Leu449Arg
NM_001276405.1:c.1330-10T>G	NP_001263334.1:n.1330-10T>G
NM_018114.5:c.845T>G	NP_060584.3:p.Leu282Arg
XM_005265269.3:c.1346T>G	XP_005265326.1:p.Leu449Arg
XM_006713219.2:c.845T>G	XP_006713282.1:p.Leu282Arg
XM_011533891.1:c.1346T>G	XP_011532193.1:p.Leu449Arg
XM_011533892.1:c.845T>G	XP_011532194.1:p.Leu282Arg
XM_011533893.1:c.*299T>G	XP_011532195.1:n.*299T>G
XR_940464.1:n.1309T>G
XR_940465.1:n.1303-10T>G
XM_005265269.4:c.1346T>G	XP_005265326.1:p.Leu449Arg
XM_011533891.2:c.1346T>G	XP_011532193.1:p.Leu449Arg
XM_011533892.2:c.845T>G	XP_011532194.1:p.Leu282Arg
XM_011533893.2:c.*299T>G	XP_011532195.1:n.*299T>G
XM_017006723.1:c.829-10T>G	XP_016862212.1:n.829-10T>G
XR_001740191.2:n.1288-10T>G
XR_940464.3:n.1304T>G
NM_001009996.3:c.1346T>G MANE Select	NP_001009996.1:p.Leu449Arg
NM_001276405.2:c.1330-10T>G	NP_001263334.1:n.1330-10T>G
NM_018114.6:c.845T>G	NP_060584.3:p.Leu282Arg