Canonical Allele Identifier: CA680727368

Gene: TUB RIC3

Linked Data

• dbSNP Id: rs1431769074
• gnomAD v3: 11-8101852-C-A
• gnomAD v4: 11-8101852-C-A
• MyVariant Identifiers: chr11:g.8123399C>A (hg19) ; chr11:g.8101852C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101852C>A , CM000673.2:g.8101852C>A	GRCh38
NC_000011.9:g.8123399C>A , CM000673.1:g.8123399C>A	GRCh37
NC_000011.8:g.8079975C>A	NCBI36
NG_029912.1:g.68220C>A
NG_030416.2:g.72192G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299506.3:c.*233C>A (TUB) MANE Select	ENSP00000299506.3:n.*233C>A
ENST00000299506.2:c.*233C>A (TUB)	ENSP00000299506.2:n.*233C>A
ENST00000305253.8:c.*233C>A (TUB)	ENSP00000305426.4:n.*233C>A
NM_003320.4:c.*233C>A (TUB)	NP_003311.2:n.*233C>A
NM_177972.2:c.*233C>A (TUB)	NP_813977.1:n.*233C>A
XM_005253109.2:c.*233C>A (TUB)	XP_005253166.1:n.*233C>A
XM_011520344.1:c.*233C>A (TUB)	XP_011518646.1:n.*233C>A
XR_428851.2:n.1484-7693G>T (RIC3)
XR_930896.1:n.1546+5483G>T (RIC3)
XR_930900.1:n.1547-4130G>T (RIC3)
NR_144485.1:n.1519+5483G>T (RIC3)
XM_005253109.3:c.*233C>A (TUB)	XP_005253166.1:n.*233C>A
XM_011520344.2:c.*233C>A (TUB)	XP_011518646.1:n.*233C>A
XR_001747957.2:n.1335-7693G>T (RIC3)
XR_428851.4:n.1422-7693G>T (RIC3)
XR_930896.3:n.1484+5483G>T (RIC3)
XR_930900.3:n.1485-4130G>T (RIC3)
NM_177972.3:c.*233C>A (TUB) MANE Select	NP_813977.1:n.*233C>A
NR_144485.2:n.1450+5483G>T (RIC3)
NM_003320.5:c.*233C>A (TUB)	NP_003311.2:n.*233C>A