Canonical Allele Identifier: CA355405524

Gene: DVL3 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184164799C>G , CM000665.2:g.184164799C>G	GRCh38
NC_000003.11:g.183882587C>G , CM000665.1:g.183882587C>G	GRCh37
NC_000003.10:g.185365281C>G	NCBI36
NG_046860.1:g.14489C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004423.4:c.467C>G (DVL3) MANE Select	NP_004414.3:p.Thr156Ser
ENST00000313143.9:c.467C>G (DVL3) MANE Select	ENSP00000316054.3:p.Thr156Ser
NM_004423.3:c.467C>G (DVL3)	NP_004414.3:p.Thr156Ser
ENST00000313143.7:c.467C>G (DVL3)	ENSP00000316054.3:p.Thr156Ser
ENST00000423300.1:c.161C>G (DVL3)	ENSP00000393849.1:p.Thr54Ser
ENST00000431765.5:c.467C>G (DVL3)	ENSP00000405885.1:p.Thr156Ser
ENST00000431765.6:c.467C>G (DVL3)	ENSP00000405885.1:p.Thr156Ser
ENST00000444495.1:c.2106+20092C>G (EIF2B5)	ENSP00000409142.1:n.2106+20092C>G
ENST00000462665.5:n.555C>G (DVL3)
ENST00000467873.1:n.153C>G (DVL3)
ENST00000478247.1:n.286C>G (DVL3)
XM_005247172.1:c.467C>G (DVL3)	XP_005247229.1:p.Thr156Ser
XM_005247172.2:c.467C>G (DVL3)	XP_005247229.1:p.Thr156Ser
XM_011512513.1:c.-219C>G (DVL3)	XP_011510815.1:n.-219C>G
XM_011512513.2:c.-219C>G (DVL3)	XP_011510815.1:n.-219C>G