Canonical Allele Identifier: CA217415317
Gene: TUB HGNC NCBI

Linked Data

dbSNP Id: rs562208847
gnomAD v2: 11-8111377-G-T
gnomAD v3: 11-8089830-G-T
gnomAD v4: 11-8089830-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8089830G>T , CM000673.2:g.8089830G>T GRCh38
NC_000011.9:g.8111377G>T , CM000673.1:g.8111377G>T GRCh37
NC_000011.8:g.8067953G>T NCBI36
NG_029912.1:g.56198G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299506.3:c.90+169G>T MANE Select ENSP00000299506.3:n.90+169G>T
ENST00000299506.2:c.90+169G>T ENSP00000299506.2:n.90+169G>T
ENST00000305253.8:c.255+169G>T ENSP00000305426.4:n.255+169G>T
ENST00000534099.5:c.108+169G>T ENSP00000434400.1:n.108+169G>T
NM_003320.4:c.255+169G>T NP_003311.2:n.255+169G>T
NM_177972.2:c.90+169G>T NP_813977.1:n.90+169G>T
XM_005253109.2:c.216+169G>T XP_005253166.1:n.216+169G>T
XM_011520344.1:c.126+169G>T XP_011518646.1:n.126+169G>T
XM_005253109.3:c.216+169G>T XP_005253166.1:n.216+169G>T
XM_011520344.2:c.126+169G>T XP_011518646.1:n.126+169G>T
NM_177972.3:c.90+169G>T MANE Select NP_813977.1:n.90+169G>T
NM_003320.5:c.255+169G>T NP_003311.2:n.255+169G>T