Canonical Allele Identifier: CA680727309

Gene: TUB RIC3

Linked Data

• dbSNP Id: rs1271547851
• gnomAD v3: 11-8101760-C-G
• gnomAD v4: 11-8101760-C-G
• MyVariant Identifiers: chr11:g.8123307C>G (hg19) ; chr11:g.8101760C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101760C>G , CM000673.2:g.8101760C>G	GRCh38
NC_000011.9:g.8123307C>G , CM000673.1:g.8123307C>G	GRCh37
NC_000011.8:g.8079883C>G	NCBI36
NG_029912.1:g.68128C>G
NG_030416.2:g.72284G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299506.3:c.*141C>G (TUB) MANE Select	ENSP00000299506.3:n.*141C>G
ENST00000299506.2:c.*141C>G (TUB)	ENSP00000299506.2:n.*141C>G
ENST00000305253.8:c.*141C>G (TUB)	ENSP00000305426.4:n.*141C>G
ENST00000534099.5:c.*141C>G (TUB)	ENSP00000434400.1:n.*141C>G
NM_003320.4:c.*141C>G (TUB)	NP_003311.2:n.*141C>G
NM_177972.2:c.*141C>G (TUB)	NP_813977.1:n.*141C>G
XM_005253109.2:c.*141C>G (TUB)	XP_005253166.1:n.*141C>G
XM_011520344.1:c.*141C>G (TUB)	XP_011518646.1:n.*141C>G
XR_428851.2:n.1484-7601G>C (RIC3)
XR_930896.1:n.1546+5575G>C (RIC3)
XR_930900.1:n.1547-4038G>C (RIC3)
NR_144485.1:n.1519+5575G>C (RIC3)
XM_005253109.3:c.*141C>G (TUB)	XP_005253166.1:n.*141C>G
XM_011520344.2:c.*141C>G (TUB)	XP_011518646.1:n.*141C>G
XR_001747957.2:n.1335-7601G>C (RIC3)
XR_428851.4:n.1422-7601G>C (RIC3)
XR_930896.3:n.1484+5575G>C (RIC3)
XR_930900.3:n.1485-4038G>C (RIC3)
NM_177972.3:c.*141C>G (TUB) MANE Select	NP_813977.1:n.*141C>G
NR_144485.2:n.1450+5575G>C (RIC3)
NM_003320.5:c.*141C>G (TUB)	NP_003311.2:n.*141C>G