Canonical Allele Identifier: CA680727304

Gene: TUB RIC3

Linked Data

• dbSNP Id: rs1228071823
• gnomAD v3: 11-8101758-G-C
• gnomAD v4: 11-8101758-G-C
• MyVariant Identifiers: chr11:g.8123305G>C (hg19) ; chr11:g.8101758G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101758G>C , CM000673.2:g.8101758G>C	GRCh38
NC_000011.9:g.8123305G>C , CM000673.1:g.8123305G>C	GRCh37
NC_000011.8:g.8079881G>C	NCBI36
NG_029912.1:g.68126G>C
NG_030416.2:g.72286C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299506.3:c.*139G>C (TUB) MANE Select	ENSP00000299506.3:n.*139G>C
ENST00000299506.2:c.*139G>C (TUB)	ENSP00000299506.2:n.*139G>C
ENST00000305253.8:c.*139G>C (TUB)	ENSP00000305426.4:n.*139G>C
ENST00000534099.5:c.*139G>C (TUB)	ENSP00000434400.1:n.*139G>C
NM_003320.4:c.*139G>C (TUB)	NP_003311.2:n.*139G>C
NM_177972.2:c.*139G>C (TUB)	NP_813977.1:n.*139G>C
XM_005253109.2:c.*139G>C (TUB)	XP_005253166.1:n.*139G>C
XM_011520344.1:c.*139G>C (TUB)	XP_011518646.1:n.*139G>C
XR_428851.2:n.1484-7599C>G (RIC3)
XR_930896.1:n.1546+5577C>G (RIC3)
XR_930900.1:n.1547-4036C>G (RIC3)
NR_144485.1:n.1519+5577C>G (RIC3)
XM_005253109.3:c.*139G>C (TUB)	XP_005253166.1:n.*139G>C
XM_011520344.2:c.*139G>C (TUB)	XP_011518646.1:n.*139G>C
XR_001747957.2:n.1335-7599C>G (RIC3)
XR_428851.4:n.1422-7599C>G (RIC3)
XR_930896.3:n.1484+5577C>G (RIC3)
XR_930900.3:n.1485-4036C>G (RIC3)
NM_177972.3:c.*139G>C (TUB) MANE Select	NP_813977.1:n.*139G>C
NR_144485.2:n.1450+5577C>G (RIC3)
NM_003320.5:c.*139G>C (TUB)	NP_003311.2:n.*139G>C