Canonical Allele Identifier: CA379562690

Gene: TUB

Linked Data

• dbSNP Id: rs1229248977
• gnomAD v4: 11-8090108-G-A
• MyVariant Identifiers: chr11:g.8111655G>A (hg19) ; chr11:g.8090108G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8090108G>A , CM000673.2:g.8090108G>A	GRCh38
NC_000011.9:g.8111655G>A , CM000673.1:g.8111655G>A	GRCh37
NC_000011.8:g.8068231G>A	NCBI36
NG_029912.1:g.56476G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.130G>A MANE Select	ENSP00000299506.3:p.Glu44Lys
ENST00000299506.2:c.130G>A	ENSP00000299506.2:p.Glu44Lys
ENST00000305253.8:c.295G>A	ENSP00000305426.4:p.Glu99Lys
ENST00000534099.5:c.148G>A	ENSP00000434400.1:p.Glu50Lys
NM_003320.4:c.295G>A	NP_003311.2:p.Glu99Lys
NM_177972.2:c.130G>A	NP_813977.1:p.Glu44Lys
XM_005253109.2:c.256G>A	XP_005253166.1:p.Glu86Lys
XM_011520344.1:c.166G>A	XP_011518646.1:p.Glu56Lys
XM_005253109.3:c.256G>A	XP_005253166.1:p.Glu86Lys
XM_011520344.2:c.166G>A	XP_011518646.1:p.Glu56Lys
NM_177972.3:c.130G>A MANE Select	NP_813977.1:p.Glu44Lys
NM_003320.5:c.295G>A	NP_003311.2:p.Glu99Lys