Canonical Allele Identifier: CA379562546

Gene: TUB

Linked Data

• dbSNP Id: rs1213792122
• gnomAD v2: 11-8111619-G-T
• MyVariant Identifiers: chr11:g.8111619G>T (hg19) ; chr11:g.8090072G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8090072G>T , CM000673.2:g.8090072G>T	GRCh38
NC_000011.9:g.8111619G>T , CM000673.1:g.8111619G>T	GRCh37
NC_000011.8:g.8068195G>T	NCBI36
NG_029912.1:g.56440G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.94G>T MANE Select	ENSP00000299506.3:p.Ala32Ser
ENST00000299506.2:c.94G>T	ENSP00000299506.2:p.Ala32Ser
ENST00000305253.8:c.259G>T	ENSP00000305426.4:p.Ala87Ser
ENST00000534099.5:c.112G>T	ENSP00000434400.1:p.Ala38Ser
NM_003320.4:c.259G>T	NP_003311.2:p.Ala87Ser
NM_177972.2:c.94G>T	NP_813977.1:p.Ala32Ser
XM_005253109.2:c.220G>T	XP_005253166.1:p.Ala74Ser
XM_011520344.1:c.130G>T	XP_011518646.1:p.Ala44Ser
XM_005253109.3:c.220G>T	XP_005253166.1:p.Ala74Ser
XM_011520344.2:c.130G>T	XP_011518646.1:p.Ala44Ser
NM_177972.3:c.94G>T MANE Select	NP_813977.1:p.Ala32Ser
NM_003320.5:c.259G>T	NP_003311.2:p.Ala87Ser