Canonical Allele Identifier: CA217430909

Gene: TUB RIC3

Linked Data

• dbSNP Id: rs569760785
• gnomAD v2: 11-8123408-G-A
• gnomAD v3: 11-8101861-G-A
• gnomAD v4: 11-8101861-G-A
• MyVariant Identifiers: chr11:g.8123408G>A (hg19) ; chr11:g.8101861G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101861G>A , CM000673.2:g.8101861G>A	GRCh38
NC_000011.9:g.8123408G>A , CM000673.1:g.8123408G>A	GRCh37
NC_000011.8:g.8079984G>A	NCBI36
NG_029912.1:g.68229G>A
NG_030416.2:g.72183C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299506.3:c.*242G>A (TUB) MANE Select	ENSP00000299506.3:n.*242G>A
ENST00000299506.2:c.*242G>A (TUB)	ENSP00000299506.2:n.*242G>A
ENST00000305253.8:c.*242G>A (TUB)	ENSP00000305426.4:n.*242G>A
NM_003320.4:c.*242G>A (TUB)	NP_003311.2:n.*242G>A
NM_177972.2:c.*242G>A (TUB)	NP_813977.1:n.*242G>A
XM_005253109.2:c.*242G>A (TUB)	XP_005253166.1:n.*242G>A
XM_011520344.1:c.*242G>A (TUB)	XP_011518646.1:n.*242G>A
XR_428851.2:n.1484-7702C>T (RIC3)
XR_930896.1:n.1546+5474C>T (RIC3)
XR_930900.1:n.1547-4139C>T (RIC3)
NR_144485.1:n.1519+5474C>T (RIC3)
XM_005253109.3:c.*242G>A (TUB)	XP_005253166.1:n.*242G>A
XM_011520344.2:c.*242G>A (TUB)	XP_011518646.1:n.*242G>A
XR_001747957.2:n.1335-7702C>T (RIC3)
XR_428851.4:n.1422-7702C>T (RIC3)
XR_930896.3:n.1484+5474C>T (RIC3)
XR_930900.3:n.1485-4139C>T (RIC3)
NM_177972.3:c.*242G>A (TUB) MANE Select	NP_813977.1:n.*242G>A
NR_144485.2:n.1450+5474C>T (RIC3)
NM_003320.5:c.*242G>A (TUB)	NP_003311.2:n.*242G>A