Canonical Allele Identifier: CA8862305

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.82831393G>A , CM000679.2:g.82831393G>A GRCh38
NC_000017.10:g.80789269G>A , CM000679.1:g.80789269G>A GRCh37
NC_000017.9:g.78382558G>A NCBI36
NG_011604.1:g.13663C>T
NG_011721.1:g.84330G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000681983.1:n.1454+16459G>A (TBCD)
ENST00000682213.1:c.1318+16459G>A (TBCD) ENSP00000508166.1:n.1318+16459G>A
ENST00000682479.1:c.1408+16459G>A (TBCD) ENSP00000508214.1:n.1408+16459G>A
ENST00000682610.1:n.558+16459G>A (TBCD)
ENST00000682722.1:c.1267+16459G>A (TBCD) ENSP00000508364.1:n.1267+16459G>A
ENST00000682921.1:n.1240+16459G>A (TBCD)
ENST00000683009.1:n.1438+16459G>A (TBCD)
ENST00000683041.1:c.1318+16459G>A (TBCD) ENSP00000506994.1:n.1318+16459G>A
ENST00000683184.1:c.*971+16459G>A (TBCD) ENSP00000507757.1:n.*971+16459G>A
ENST00000683282.1:c.1318+16459G>A (TBCD) ENSP00000506913.1:n.1318+16459G>A
ENST00000683444.1:c.*895+16459G>A (TBCD) ENSP00000507553.1:n.*895+16459G>A
ENST00000683821.1:c.-369+676G>A (TBCD) ENSP00000507651.1:n.-369+676G>A
ENST00000684000.1:c.1402+16459G>A (TBCD) ENSP00000506795.1:n.1402+16459G>A
ENST00000684188.1:c.1129+16459G>A (TBCD) ENSP00000507153.1:n.1129+16459G>A
ENST00000684349.1:c.1318+16459G>A (TBCD) ENSP00000508067.1:n.1318+16459G>A
ENST00000684361.1:c.1318+16459G>A (TBCD) ENSP00000507364.1:n.1318+16459G>A
ENST00000684408.1:c.1318+16459G>A (TBCD) ENSP00000506837.1:n.1318+16459G>A
ENST00000684429.1:c.1246+16459G>A (TBCD) ENSP00000507224.1:n.1246+16459G>A
ENST00000684464.1:c.1318+16459G>A (TBCD) ENSP00000508333.1:n.1318+16459G>A
ENST00000684544.1:c.1318+16459G>A (TBCD) ENSP00000507337.1:n.1318+16459G>A
ENST00000684760.1:c.1318+16459G>A (TBCD) ENSP00000507696.1:n.1318+16459G>A
ENST00000684776.1:c.1223+21611G>A (TBCD) ENSP00000507861.1:n.1223+21611G>A
ENST00000269394.4:c.1062C>T (ZNF750) MANE Select ENSP00000269394.3:p.Thr354=
ENST00000355528.9:c.1318+16459G>A (TBCD) MANE Select ENSP00000347719.4:n.1318+16459G>A
ENST00000269394.3:c.1062C>T (ZNF750) ENSP00000269394.3:p.Thr354=
ENST00000355528.8:c.1318+16459G>A (TBCD) ENSP00000347719.4:n.1318+16459G>A
ENST00000539345.6:c.1318+16459G>A (TBCD) ENSP00000440671.2:n.1318+16459G>A
ENST00000572562.1:c.-136C>T (ZNF750) ENSP00000458389.1:n.-136C>T
NM_005993.4:c.1318+16459G>A (TBCD) NP_005984.3:n.1318+16459G>A
NM_024702.2:c.1062C>T (ZNF750) NP_078978.2:p.Thr354=
XM_005256396.3:c.1267+16459G>A (TBCD) XP_005256453.1:n.1267+16459G>A
XM_005256401.3:c.-369+676G>A (TBCD) XP_005256458.1:n.-369+676G>A
XM_006722290.2:c.1318+16459G>A (TBCD) XP_006722353.1:n.1318+16459G>A
XM_011523589.1:c.973+16459G>A (TBCD) XP_011521891.1:n.973+16459G>A
XM_011523590.1:c.1318+16459G>A (TBCD) XP_011521892.1:n.1318+16459G>A
XM_011523591.1:c.958+16459G>A (TBCD) XP_011521893.1:n.958+16459G>A
XM_011523592.1:c.871+16459G>A (TBCD) XP_011521894.1:n.871+16459G>A
XM_011523593.1:c.565+16459G>A (TBCD) XP_011521895.1:n.565+16459G>A
XM_011523596.1:c.1318+16459G>A (TBCD) XP_011521898.1:n.1318+16459G>A
XR_430033.2:n.1426+16459G>A (TBCD)
XM_005256396.4:c.1267+16459G>A (TBCD) XP_005256453.1:n.1267+16459G>A
XM_011523589.2:c.973+16459G>A (TBCD) XP_011521891.1:n.973+16459G>A
XM_011523591.2:c.958+16459G>A (TBCD) XP_011521893.1:n.958+16459G>A
XM_011523593.2:c.565+16459G>A (TBCD) XP_011521895.1:n.565+16459G>A
XM_017024987.1:c.1129+16459G>A (TBCD) XP_016880476.1:n.1129+16459G>A
XM_017024988.1:c.1318+16459G>A (TBCD) XP_016880477.1:n.1318+16459G>A
XM_017024990.2:c.-369+16369G>A (TBCD) XP_016880479.1:n.-369+16369G>A
XM_024450901.1:c.-369+676G>A (TBCD) XP_024306669.1:n.-369+676G>A
XR_001752597.1:n.1426+16459G>A (TBCD)
XR_001752598.1:n.1426+16459G>A (TBCD)
XR_001752599.1:n.1426+16459G>A (TBCD)
XR_001752600.1:n.1426+16459G>A (TBCD)
NM_005993.5:c.1318+16459G>A (TBCD) MANE Select NP_005984.3:n.1318+16459G>A
NM_024702.3:c.1062C>T (ZNF750) MANE Select NP_078978.2:p.Thr354=