Canonical Allele Identifier: CA2727032

Gene: DVL3 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184164326G>A , CM000665.2:g.184164326G>A	GRCh38
NC_000003.11:g.183882114G>A , CM000665.1:g.183882114G>A	GRCh37
NC_000003.10:g.185364808G>A	NCBI36
NG_046860.1:g.14016G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004423.4:c.291G>A (DVL3) MANE Select	NP_004414.3:p.Ser97=
ENST00000313143.9:c.291G>A (DVL3) MANE Select	ENSP00000316054.3:p.Ser97=
NM_004423.3:c.291G>A (DVL3)	NP_004414.3:p.Ser97=
ENST00000313143.7:c.291G>A (DVL3)	ENSP00000316054.3:p.Ser97=
ENST00000423300.1:c.-16G>A (DVL3)	ENSP00000393849.1:n.-16G>A
ENST00000431765.5:c.291G>A (DVL3)	ENSP00000405885.1:p.Ser97=
ENST00000431765.6:c.291G>A (DVL3)	ENSP00000405885.1:p.Ser97=
ENST00000435708.5:c.*145G>A (DVL3)	ENSP00000412345.1:n.*145G>A
ENST00000435708.6:c.*145G>A (DVL3)	ENSP00000412345.1:n.*145G>A
ENST00000444495.1:c.2106+19619G>A (EIF2B5)	ENSP00000409142.1:n.2106+19619G>A
ENST00000462665.5:n.365G>A (DVL3)
ENST00000478247.1:n.110G>A (DVL3)
ENST00000649364.1:c.*188G>A (DVL3)	ENSP00000497340.1:n.*188G>A
XM_005247172.1:c.291G>A (DVL3)	XP_005247229.1:p.Ser97=
XM_005247172.2:c.291G>A (DVL3)	XP_005247229.1:p.Ser97=
XM_011512513.1:c.-409G>A (DVL3)	XP_011510815.1:n.-409G>A
XM_011512513.2:c.-409G>A (DVL3)	XP_011510815.1:n.-409G>A