Canonical Allele Identifier: CA2612334096

Gene: TUB RIC3

Linked Data

• gnomAD v4: 11-8101811-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101811A>C , CM000673.2:g.8101811A>C	GRCh38
NC_000011.9:g.8123358A>C , CM000673.1:g.8123358A>C	GRCh37
NC_000011.8:g.8079934A>C	NCBI36
NG_029912.1:g.68179A>C
NG_030416.2:g.72233T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.*192A>C (TUB) MANE Select	ENSP00000299506.3:n.*192A>C
ENST00000299506.2:c.*192A>C (TUB)	ENSP00000299506.2:n.*192A>C
ENST00000305253.8:c.*192A>C (TUB)	ENSP00000305426.4:n.*192A>C
NM_003320.4:c.*192A>C (TUB)	NP_003311.2:n.*192A>C
NM_177972.2:c.*192A>C (TUB)	NP_813977.1:n.*192A>C
XM_005253109.2:c.*192A>C (TUB)	XP_005253166.1:n.*192A>C
XM_011520344.1:c.*192A>C (TUB)	XP_011518646.1:n.*192A>C
XR_428851.2:n.1484-7652T>G (RIC3)
XR_930896.1:n.1546+5524T>G (RIC3)
XR_930900.1:n.1547-4089T>G (RIC3)
NR_144485.1:n.1519+5524T>G (RIC3)
XM_005253109.3:c.*192A>C (TUB)	XP_005253166.1:n.*192A>C
XM_011520344.2:c.*192A>C (TUB)	XP_011518646.1:n.*192A>C
XR_001747957.2:n.1335-7652T>G (RIC3)
XR_428851.4:n.1422-7652T>G (RIC3)
XR_930896.3:n.1484+5524T>G (RIC3)
XR_930900.3:n.1485-4089T>G (RIC3)
NM_177972.3:c.*192A>C (TUB) MANE Select	NP_813977.1:n.*192A>C
NR_144485.2:n.1450+5524T>G (RIC3)
NM_003320.5:c.*192A>C (TUB)	NP_003311.2:n.*192A>C