Canonical Allele Identifier: CA13188711
Gene:

Identifiers and link-outs to other resources

dbSNP Id: rs9326506

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43573110A>C , CM000672.2:g.43573110A>C GRCh38
NC_000010.10:g.44068558A>C , CM000672.1:g.44068558A>C GRCh37
NC_000010.9:g.43388564A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_001099282.1:c.-216+527T>G VV NP_001092752.1:p.=
NM_001099283.1:c.-93+1430T>G VV NP_001092753.1:p.=
NM_001099284.1:c.-216+1430T>G VV NP_001092754.1:p.=
XM_005271828.1:c.-216+527T>G XP_005271885.1:p.=
XM_005271829.1:c.-216+1361T>G XP_005271886.1:p.=
XM_005271831.1:c.-93+1361T>G XP_005271888.1:p.=
XM_006718002.1:c.-93+527T>G XP_006718065.1:p.=
XM_006718003.2:c.-93+928T>G XP_006718066.1:p.=
XM_011540233.1:c.-94+527T>G XP_011538535.1:p.=
XM_011540234.1:c.-94+1430T>G XP_011538536.1:p.=
XM_011540235.1:c.-94+1361T>G XP_011538537.1:p.=
XM_011540236.1:c.-94+928T>G XP_011538538.1:p.=
NM_001324347.1:c.-93+527T>G VV NP_001311276.1:p.=
NM_001324348.1:c.-93+1361T>G VV NP_001311277.1:p.=
NM_001324349.1:c.-216+527T>G VV NP_001311278.1:p.=
NM_001324350.1:c.-93+527T>G VV NP_001311279.1:p.=
NM_001324351.1:c.-216+1361T>G VV NP_001311280.1:p.=
NM_001324352.1:c.-94+527T>G VV NP_001311281.1:p.=
NM_001324353.1:c.15+527T>G VV NP_001311282.1:p.=
XM_006718003.3:c.-93+928T>G XP_006718066.1:p.=
XM_011540232.3:c.-2720T>G XP_011538534.1:p.=
XM_011540234.2:c.-94+1430T>G XP_011538536.1:p.=
XM_011540235.2:c.-94+1361T>G XP_011538537.1:p.=
XM_011540236.2:c.-94+928T>G XP_011538538.1:p.=
XM_017016740.1:c.-94+527T>G XP_016872229.1:p.=
ENST00000374446.6:c.-216+527T>G ENSP00000363569.1:p.=
ENST00000426961.1:c.-216+1430T>G ENSP00000398202.1:p.=
ENST00000491188.1:n.58+1430T>G
ENST00000535642.5:c.-93+1430T>G ENSP00000443907.1:p.=