Canonical Allele Identifier: CA379572692

Gene: TUB RIC3

Linked Data

• MyVariant Identifiers: chr11:g.8123137A>T (hg19) ; chr11:g.8101590A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101590A>T , CM000673.2:g.8101590A>T	GRCh38
NC_000011.9:g.8123137A>T , CM000673.1:g.8123137A>T	GRCh37
NC_000011.8:g.8079713A>T	NCBI36
NG_029912.1:g.67958A>T
NG_030416.2:g.72454T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.1492A>T (TUB) MANE Select	ENSP00000299506.3:p.Ser498Cys
ENST00000299506.2:c.1492A>T (TUB)	ENSP00000299506.2:p.Ser498Cys
ENST00000305253.8:c.1657A>T (TUB)	ENSP00000305426.4:p.Ser553Cys
ENST00000534099.5:c.1510A>T (TUB)	ENSP00000434400.1:p.Ser504Cys
NM_003320.4:c.1657A>T (TUB)	NP_003311.2:p.Ser553Cys
NM_177972.2:c.1492A>T (TUB)	NP_813977.1:p.Ser498Cys
XM_005253109.2:c.1618A>T (TUB)	XP_005253166.1:p.Ser540Cys
XM_011520344.1:c.1528A>T (TUB)	XP_011518646.1:p.Ser510Cys
XR_428851.2:n.1484-7431T>A (RIC3)
XR_930896.1:n.1546+5745T>A (RIC3)
XR_930900.1:n.1547-3868T>A (RIC3)
NR_144485.1:n.1519+5745T>A (RIC3)
XM_005253109.3:c.1618A>T (TUB)	XP_005253166.1:p.Ser540Cys
XM_011520344.2:c.1528A>T (TUB)	XP_011518646.1:p.Ser510Cys
XR_001747957.2:n.1335-7431T>A (RIC3)
XR_428851.4:n.1422-7431T>A (RIC3)
XR_930896.3:n.1484+5745T>A (RIC3)
XR_930900.3:n.1485-3868T>A (RIC3)
NM_177972.3:c.1492A>T (TUB) MANE Select	NP_813977.1:p.Ser498Cys
NR_144485.2:n.1450+5745T>A (RIC3)
NM_003320.5:c.1657A>T (TUB)	NP_003311.2:p.Ser553Cys