Canonical Allele Identifier: CA597327089

Gene: TUB RIC3

Linked Data

• dbSNP Id: rs1205103982
• gnomAD v2: 11-8123325-T-G
• gnomAD v3: 11-8101778-T-G
• gnomAD v4: 11-8101778-T-G
• MyVariant Identifiers: chr11:g.8123325T>G (hg19) ; chr11:g.8101778T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101778T>G , CM000673.2:g.8101778T>G	GRCh38
NC_000011.9:g.8123325T>G , CM000673.1:g.8123325T>G	GRCh37
NC_000011.8:g.8079901T>G	NCBI36
NG_029912.1:g.68146T>G
NG_030416.2:g.72266A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299506.3:c.*159T>G (TUB) MANE Select	ENSP00000299506.3:n.*159T>G
ENST00000299506.2:c.*159T>G (TUB)	ENSP00000299506.2:n.*159T>G
ENST00000305253.8:c.*159T>G (TUB)	ENSP00000305426.4:n.*159T>G
ENST00000534099.5:c.*159T>G (TUB)	ENSP00000434400.1:n.*159T>G
NM_003320.4:c.*159T>G (TUB)	NP_003311.2:n.*159T>G
NM_177972.2:c.*159T>G (TUB)	NP_813977.1:n.*159T>G
XM_005253109.2:c.*159T>G (TUB)	XP_005253166.1:n.*159T>G
XM_011520344.1:c.*159T>G (TUB)	XP_011518646.1:n.*159T>G
XR_428851.2:n.1484-7619A>C (RIC3)
XR_930896.1:n.1546+5557A>C (RIC3)
XR_930900.1:n.1547-4056A>C (RIC3)
NR_144485.1:n.1519+5557A>C (RIC3)
XM_005253109.3:c.*159T>G (TUB)	XP_005253166.1:n.*159T>G
XM_011520344.2:c.*159T>G (TUB)	XP_011518646.1:n.*159T>G
XR_001747957.2:n.1335-7619A>C (RIC3)
XR_428851.4:n.1422-7619A>C (RIC3)
XR_930896.3:n.1484+5557A>C (RIC3)
XR_930900.3:n.1485-4056A>C (RIC3)
NM_177972.3:c.*159T>G (TUB) MANE Select	NP_813977.1:n.*159T>G
NR_144485.2:n.1450+5557A>C (RIC3)
NM_003320.5:c.*159T>G (TUB)	NP_003311.2:n.*159T>G