Canonical Allele Identifier: CA5870966

Gene: TUB

Linked Data

• dbSNP Id: rs751819088
• ExAC: 11:8111643 A / C
• gnomAD v2: 11-8111643-A-C
• gnomAD v4: 11-8090096-A-C
• MyVariant Identifiers: chr11:g.8111643A>C (hg19) ; chr11:g.8090096A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8090096A>C , CM000673.2:g.8090096A>C	GRCh38
NC_000011.9:g.8111643A>C , CM000673.1:g.8111643A>C	GRCh37
NC_000011.8:g.8068219A>C	NCBI36
NG_029912.1:g.56464A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.118A>C MANE Select	ENSP00000299506.3:p.Lys40Gln
ENST00000299506.2:c.118A>C	ENSP00000299506.2:p.Lys40Gln
ENST00000305253.8:c.283A>C	ENSP00000305426.4:p.Lys95Gln
ENST00000534099.5:c.136A>C	ENSP00000434400.1:p.Lys46Gln
NM_003320.4:c.283A>C	NP_003311.2:p.Lys95Gln
NM_177972.2:c.118A>C	NP_813977.1:p.Lys40Gln
XM_005253109.2:c.244A>C	XP_005253166.1:p.Lys82Gln
XM_011520344.1:c.154A>C	XP_011518646.1:p.Lys52Gln
XM_005253109.3:c.244A>C	XP_005253166.1:p.Lys82Gln
XM_011520344.2:c.154A>C	XP_011518646.1:p.Lys52Gln
NM_177972.3:c.118A>C MANE Select	NP_813977.1:p.Lys40Gln
NM_003320.5:c.283A>C	NP_003311.2:p.Lys95Gln