Canonical Allele Identifier: CA355412717

Gene: DVL3 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184168040C>G , CM000665.2:g.184168040C>G	GRCh38
NC_000003.11:g.183885828C>G , CM000665.1:g.183885828C>G	GRCh37
NC_000003.10:g.185368522C>G	NCBI36
NG_046860.1:g.17730C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004423.4:c.1473C>G (DVL3) MANE Select	NP_004414.3:p.Tyr491Ter
ENST00000313143.9:c.1473C>G (DVL3) MANE Select	ENSP00000316054.3:p.Tyr491Ter
NM_004423.3:c.1473C>G (DVL3)	NP_004414.3:p.Tyr491Ter
ENST00000313143.7:c.1473C>G (DVL3)	ENSP00000316054.3:p.Tyr491Ter
ENST00000431765.5:c.1422C>G (DVL3)	ENSP00000405885.1:p.Tyr474Ter
ENST00000431765.6:c.1422C>G (DVL3)	ENSP00000405885.1:p.Tyr474Ter
ENST00000444495.1:c.2106+23333C>G (EIF2B5)	ENSP00000409142.1:n.2106+23333C>G
ENST00000478247.1:n.1473C>G (DVL3)
ENST00000649847.1:c.799C>G (DVL3)	ENSP00000497654.1:n.799C>G
XM_005247172.1:c.1473C>G (DVL3)	XP_005247229.1:p.Tyr491Ter
XM_005247172.2:c.1473C>G (DVL3)	XP_005247229.1:p.Tyr491Ter
XM_011512513.1:c.969C>G (DVL3)	XP_011510815.1:p.Tyr323Ter
XM_011512513.2:c.969C>G (DVL3)	XP_011510815.1:p.Tyr323Ter