Canonical Allele Identifier: CA2727189

Gene: DVL3 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184165177C>T , CM000665.2:g.184165177C>T	GRCh38
NC_000003.11:g.183882965C>T , CM000665.1:g.183882965C>T	GRCh37
NC_000003.10:g.185365659C>T	NCBI36
NG_046860.1:g.14867C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313143.9:c.664C>T (DVL3) MANE Select	ENSP00000316054.3:p.Arg222Trp
ENST00000431765.6:c.664C>T (DVL3)	ENSP00000405885.1:p.Arg222Trp
ENST00000648288.1:n.141C>T (DVL3)
ENST00000649847.1:c.67C>T (DVL3)	ENSP00000497654.1:p.Arg23Trp
ENST00000313143.7:c.664C>T (DVL3)	ENSP00000316054.3:p.Arg222Trp
ENST00000423300.1:c.358C>T (DVL3)	ENSP00000393849.1:p.Arg120Trp
ENST00000431765.5:c.664C>T (DVL3)	ENSP00000405885.1:p.Arg222Trp
ENST00000444495.1:c.2106+20470C>T (EIF2B5)	ENSP00000409142.1:n.2106+20470C>T
ENST00000467873.1:n.531C>T (DVL3)
ENST00000478247.1:n.664C>T (DVL3)
NM_004423.3:c.664C>T (DVL3)	NP_004414.3:p.Arg222Trp
XM_005247172.1:c.664C>T (DVL3)	XP_005247229.1:p.Arg222Trp
XM_011512513.1:c.160C>T (DVL3)	XP_011510815.1:p.Arg54Trp
NM_004423.4:c.664C>T (DVL3) MANE Select	NP_004414.3:p.Arg222Trp
XM_005247172.2:c.664C>T (DVL3)	XP_005247229.1:p.Arg222Trp
XM_011512513.2:c.160C>T (DVL3)	XP_011510815.1:p.Arg54Trp