Canonical Allele Identifier: CA2726970

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184155757G>A , CM000665.2:g.184155757G>A GRCh38
NC_000003.11:g.183873545G>A , CM000665.1:g.183873545G>A GRCh37
NC_000003.10:g.185356239G>A NCBI36
NG_046860.1:g.5447G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000313143.9:c.122G>A (DVL3) MANE Select ENSP00000316054.3:p.Ser41Asn
ENST00000431765.6:c.122G>A (DVL3) ENSP00000405885.1:p.Ser41Asn
ENST00000435708.6:c.122G>A (DVL3) ENSP00000412345.1:p.Ser41Asn
ENST00000649364.1:c.122G>A (DVL3) ENSP00000497340.1:p.Ser41Asn
ENST00000313143.7:c.122G>A (DVL3) ENSP00000316054.3:p.Ser41Asn
ENST00000431765.5:c.122G>A (DVL3) ENSP00000405885.1:p.Ser41Asn
ENST00000435708.5:c.122G>A (DVL3) ENSP00000412345.1:p.Ser41Asn
ENST00000444495.1:c.2106+11050G>A (EIF2B5) ENSP00000409142.1:n.2106+11050G>A
ENST00000462665.5:n.196G>A (DVL3)
NM_004423.3:c.122G>A (DVL3) NP_004414.3:p.Ser41Asn
XM_005247172.1:c.122G>A (DVL3) XP_005247229.1:p.Ser41Asn
NM_004423.4:c.122G>A (DVL3) MANE Select NP_004414.3:p.Ser41Asn
XM_005247172.2:c.122G>A (DVL3) XP_005247229.1:p.Ser41Asn