Canonical Allele Identifier: CA2727193

Gene: DVL3 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184165196G>A , CM000665.2:g.184165196G>A	GRCh38
NC_000003.11:g.183882984G>A , CM000665.1:g.183882984G>A	GRCh37
NC_000003.10:g.185365678G>A	NCBI36
NG_046860.1:g.14886G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004423.4:c.683G>A (DVL3) MANE Select	NP_004414.3:p.Arg228Gln
ENST00000313143.9:c.683G>A (DVL3) MANE Select	ENSP00000316054.3:p.Arg228Gln
NM_004423.3:c.683G>A (DVL3)	NP_004414.3:p.Arg228Gln
ENST00000313143.7:c.683G>A (DVL3)	ENSP00000316054.3:p.Arg228Gln
ENST00000423300.1:c.377G>A (DVL3)	ENSP00000393849.1:p.Arg126Gln
ENST00000431765.5:c.683G>A (DVL3)	ENSP00000405885.1:p.Arg228Gln
ENST00000431765.6:c.683G>A (DVL3)	ENSP00000405885.1:p.Arg228Gln
ENST00000444495.1:c.2106+20489G>A (EIF2B5)	ENSP00000409142.1:n.2106+20489G>A
ENST00000467873.1:n.550G>A (DVL3)
ENST00000478247.1:n.683G>A (DVL3)
ENST00000648288.1:n.160G>A (DVL3)
ENST00000649847.1:c.86G>A (DVL3)	ENSP00000497654.1:p.Arg29Gln
XM_005247172.1:c.683G>A (DVL3)	XP_005247229.1:p.Arg228Gln
XM_005247172.2:c.683G>A (DVL3)	XP_005247229.1:p.Arg228Gln
XM_011512513.1:c.179G>A (DVL3)	XP_011510815.1:p.Arg60Gln
XM_011512513.2:c.179G>A (DVL3)	XP_011510815.1:p.Arg60Gln