Canonical Allele Identifier: CA355405511

Gene: DVL3 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184164798A>T , CM000665.2:g.184164798A>T	GRCh38
NC_000003.11:g.183882586A>T , CM000665.1:g.183882586A>T	GRCh37
NC_000003.10:g.185365280A>T	NCBI36
NG_046860.1:g.14488A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004423.4:c.466A>T (DVL3) MANE Select	NP_004414.3:p.Thr156Ser
ENST00000313143.9:c.466A>T (DVL3) MANE Select	ENSP00000316054.3:p.Thr156Ser
NM_004423.3:c.466A>T (DVL3)	NP_004414.3:p.Thr156Ser
ENST00000313143.7:c.466A>T (DVL3)	ENSP00000316054.3:p.Thr156Ser
ENST00000423300.1:c.160A>T (DVL3)	ENSP00000393849.1:p.Thr54Ser
ENST00000431765.5:c.466A>T (DVL3)	ENSP00000405885.1:p.Thr156Ser
ENST00000431765.6:c.466A>T (DVL3)	ENSP00000405885.1:p.Thr156Ser
ENST00000444495.1:c.2106+20091A>T (EIF2B5)	ENSP00000409142.1:n.2106+20091A>T
ENST00000462665.5:n.554A>T (DVL3)
ENST00000467873.1:n.152A>T (DVL3)
ENST00000478247.1:n.285A>T (DVL3)
XM_005247172.1:c.466A>T (DVL3)	XP_005247229.1:p.Thr156Ser
XM_005247172.2:c.466A>T (DVL3)	XP_005247229.1:p.Thr156Ser
XM_011512513.1:c.-220A>T (DVL3)	XP_011510815.1:n.-220A>T
XM_011512513.2:c.-220A>T (DVL3)	XP_011510815.1:n.-220A>T