Canonical Allele Identifier: CA597327125

Gene: TUB RIC3

Linked Data

• dbSNP Id: rs1304809654
• gnomAD v2: 11-8123502-G-A
• gnomAD v3: 11-8101955-G-A
• gnomAD v4: 11-8101955-G-A
• MyVariant Identifiers: chr11:g.8123502G>A (hg19) ; chr11:g.8101955G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101955G>A , CM000673.2:g.8101955G>A	GRCh38
NC_000011.9:g.8123502G>A , CM000673.1:g.8123502G>A	GRCh37
NC_000011.8:g.8080078G>A	NCBI36
NG_029912.1:g.68323G>A
NG_030416.2:g.72089C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299506.3:c.*336G>A (TUB) MANE Select	ENSP00000299506.3:n.*336G>A
ENST00000299506.2:c.*336G>A (TUB)	ENSP00000299506.2:n.*336G>A
ENST00000305253.8:c.*336G>A (TUB)	ENSP00000305426.4:n.*336G>A
NM_003320.4:c.*336G>A (TUB)	NP_003311.2:n.*336G>A
NM_177972.2:c.*336G>A (TUB)	NP_813977.1:n.*336G>A
XM_005253109.2:c.*336G>A (TUB)	XP_005253166.1:n.*336G>A
XM_011520344.1:c.*336G>A (TUB)	XP_011518646.1:n.*336G>A
XR_428851.2:n.1484-7796C>T (RIC3)
XR_930896.1:n.1546+5380C>T (RIC3)
XR_930900.1:n.1547-4233C>T (RIC3)
NR_144485.1:n.1519+5380C>T (RIC3)
XM_005253109.3:c.*336G>A (TUB)	XP_005253166.1:n.*336G>A
XM_011520344.2:c.*336G>A (TUB)	XP_011518646.1:n.*336G>A
XR_001747957.2:n.1335-7796C>T (RIC3)
XR_428851.4:n.1422-7796C>T (RIC3)
XR_930896.3:n.1484+5380C>T (RIC3)
XR_930900.3:n.1485-4233C>T (RIC3)
NM_177972.3:c.*336G>A (TUB) MANE Select	NP_813977.1:n.*336G>A
NR_144485.2:n.1450+5380C>T (RIC3)
NM_003320.5:c.*336G>A (TUB)	NP_003311.2:n.*336G>A