Canonical Allele Identifier: CA2612334842

Gene: TUB RIC3

Linked Data

• gnomAD v4: 11-8101966-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101966G>C , CM000673.2:g.8101966G>C	GRCh38
NC_000011.9:g.8123513G>C , CM000673.1:g.8123513G>C	GRCh37
NC_000011.8:g.8080089G>C	NCBI36
NG_029912.1:g.68334G>C
NG_030416.2:g.72078C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299506.3:c.*347G>C (TUB) MANE Select	ENSP00000299506.3:n.*347G>C
ENST00000299506.2:c.*347G>C (TUB)	ENSP00000299506.2:n.*347G>C
ENST00000305253.8:c.*347G>C (TUB)	ENSP00000305426.4:n.*347G>C
NM_003320.4:c.*347G>C (TUB)	NP_003311.2:n.*347G>C
NM_177972.2:c.*347G>C (TUB)	NP_813977.1:n.*347G>C
XM_005253109.2:c.*347G>C (TUB)	XP_005253166.1:n.*347G>C
XM_011520344.1:c.*347G>C (TUB)	XP_011518646.1:n.*347G>C
XR_428851.2:n.1484-7807C>G (RIC3)
XR_930896.1:n.1546+5369C>G (RIC3)
XR_930900.1:n.1547-4244C>G (RIC3)
NR_144485.1:n.1519+5369C>G (RIC3)
XM_005253109.3:c.*347G>C (TUB)	XP_005253166.1:n.*347G>C
XM_011520344.2:c.*347G>C (TUB)	XP_011518646.1:n.*347G>C
XR_001747957.2:n.1335-7807C>G (RIC3)
XR_428851.4:n.1422-7807C>G (RIC3)
XR_930896.3:n.1484+5369C>G (RIC3)
XR_930900.3:n.1485-4244C>G (RIC3)
NM_177972.3:c.*347G>C (TUB) MANE Select	NP_813977.1:n.*347G>C
NR_144485.2:n.1450+5369C>G (RIC3)
NM_003320.5:c.*347G>C (TUB)	NP_003311.2:n.*347G>C