Canonical Allele Identifier: CA473010323

Linked Data

MyVariant Identifiers: chr11:g.8123154G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8101607G>C , CM000673.2:g.8101607G>C GRCh38
NC_000011.9:g.8123154G>C , CM000673.1:g.8123154G>C GRCh37
NC_000011.8:g.8079730G>C NCBI36
NG_029912.1:g.67975G>C
NG_030416.2:g.72437C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.1509G>C (TUB) MANE Select ENSP00000299506.3:p.Leu503=
ENST00000299506.2:c.1509G>C (TUB) ENSP00000299506.2:p.Leu503=
ENST00000305253.8:c.1674G>C (TUB) ENSP00000305426.4:p.Leu558=
ENST00000534099.5:c.1527G>C (TUB) ENSP00000434400.1:p.Leu509=
NM_003320.4:c.1674G>C (TUB) NP_003311.2:p.Leu558=
NM_177972.2:c.1509G>C (TUB) NP_813977.1:p.Leu503=
XM_005253109.2:c.1635G>C (TUB) XP_005253166.1:p.Leu545=
XM_011520344.1:c.1545G>C (TUB) XP_011518646.1:p.Leu515=
XR_428851.2:n.1484-7448C>G (RIC3)
XR_930896.1:n.1546+5728C>G (RIC3)
XR_930900.1:n.1547-3885C>G (RIC3)
NR_144485.1:n.1519+5728C>G (RIC3)
XM_005253109.3:c.1635G>C (TUB) XP_005253166.1:p.Leu545=
XM_011520344.2:c.1545G>C (TUB) XP_011518646.1:p.Leu515=
XR_001747957.2:n.1335-7448C>G (RIC3)
XR_428851.4:n.1422-7448C>G (RIC3)
XR_930896.3:n.1484+5728C>G (RIC3)
XR_930900.3:n.1485-3885C>G (RIC3)
NM_177972.3:c.1509G>C (TUB) MANE Select NP_813977.1:p.Leu503=
NR_144485.2:n.1450+5728C>G (RIC3)
NM_003320.5:c.1674G>C (TUB) NP_003311.2:p.Leu558=