Canonical Allele Identifier: CA379572697

Gene: TUB RIC3

Linked Data

• MyVariant Identifiers: chr11:g.8123139C>A (hg19) ; chr11:g.8101592C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101592C>A , CM000673.2:g.8101592C>A	GRCh38
NC_000011.9:g.8123139C>A , CM000673.1:g.8123139C>A	GRCh37
NC_000011.8:g.8079715C>A	NCBI36
NG_029912.1:g.67960C>A
NG_030416.2:g.72452G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.1494C>A (TUB) MANE Select	ENSP00000299506.3:p.Ser498Arg
ENST00000299506.2:c.1494C>A (TUB)	ENSP00000299506.2:p.Ser498Arg
ENST00000305253.8:c.1659C>A (TUB)	ENSP00000305426.4:p.Ser553Arg
ENST00000534099.5:c.1512C>A (TUB)	ENSP00000434400.1:p.Ser504Arg
NM_003320.4:c.1659C>A (TUB)	NP_003311.2:p.Ser553Arg
NM_177972.2:c.1494C>A (TUB)	NP_813977.1:p.Ser498Arg
XM_005253109.2:c.1620C>A (TUB)	XP_005253166.1:p.Ser540Arg
XM_011520344.1:c.1530C>A (TUB)	XP_011518646.1:p.Ser510Arg
XR_428851.2:n.1484-7433G>T (RIC3)
XR_930896.1:n.1546+5743G>T (RIC3)
XR_930900.1:n.1547-3870G>T (RIC3)
NR_144485.1:n.1519+5743G>T (RIC3)
XM_005253109.3:c.1620C>A (TUB)	XP_005253166.1:p.Ser540Arg
XM_011520344.2:c.1530C>A (TUB)	XP_011518646.1:p.Ser510Arg
XR_001747957.2:n.1335-7433G>T (RIC3)
XR_428851.4:n.1422-7433G>T (RIC3)
XR_930896.3:n.1484+5743G>T (RIC3)
XR_930900.3:n.1485-3870G>T (RIC3)
NM_177972.3:c.1494C>A (TUB) MANE Select	NP_813977.1:p.Ser498Arg
NR_144485.2:n.1450+5743G>T (RIC3)
NM_003320.5:c.1659C>A (TUB)	NP_003311.2:p.Ser553Arg