Canonical Allele Identifier: CA5871557

Gene: TUB RIC3

Linked Data

• dbSNP Id: rs370317654
• ExAC: 11:8123206 G / C
• gnomAD v2: 11-8123206-G-C
• MyVariant Identifiers: chr11:g.8123206G>C (hg19) ; chr11:g.8101659G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101659G>C , CM000673.2:g.8101659G>C	GRCh38
NC_000011.9:g.8123206G>C , CM000673.1:g.8123206G>C	GRCh37
NC_000011.8:g.8079782G>C	NCBI36
NG_029912.1:g.68027G>C
NG_030416.2:g.72385C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.*40G>C (TUB) MANE Select	ENSP00000299506.3:n.*40G>C
ENST00000299506.2:c.*40G>C (TUB)	ENSP00000299506.2:n.*40G>C
ENST00000305253.8:c.*40G>C (TUB)	ENSP00000305426.4:n.*40G>C
ENST00000534099.5:c.*40G>C (TUB)	ENSP00000434400.1:n.*40G>C
NM_003320.4:c.*40G>C (TUB)	NP_003311.2:n.*40G>C
NM_177972.2:c.*40G>C (TUB)	NP_813977.1:n.*40G>C
XM_005253109.2:c.*40G>C (TUB)	XP_005253166.1:n.*40G>C
XM_011520344.1:c.*40G>C (TUB)	XP_011518646.1:n.*40G>C
XR_428851.2:n.1484-7500C>G (RIC3)
XR_930896.1:n.1546+5676C>G (RIC3)
XR_930900.1:n.1547-3937C>G (RIC3)
NR_144485.1:n.1519+5676C>G (RIC3)
XM_005253109.3:c.*40G>C (TUB)	XP_005253166.1:n.*40G>C
XM_011520344.2:c.*40G>C (TUB)	XP_011518646.1:n.*40G>C
XR_001747957.2:n.1335-7500C>G (RIC3)
XR_428851.4:n.1422-7500C>G (RIC3)
XR_930896.3:n.1484+5676C>G (RIC3)
XR_930900.3:n.1485-3937C>G (RIC3)
NM_177972.3:c.*40G>C (TUB) MANE Select	NP_813977.1:n.*40G>C
NR_144485.2:n.1450+5676C>G (RIC3)
NM_003320.5:c.*40G>C (TUB)	NP_003311.2:n.*40G>C