Canonical Allele Identifier: CA449776555
Gene: TUBB HGNC NCBI

Linked Data

dbSNP Id: rs1562158119
gnomAD v4: 6-30723824-A-C
MyVariant Identifiers: chr6:g.30691601A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30723824A>C , CM000668.2:g.30723824A>C GRCh38
NC_000006.11:g.30691601A>C , CM000668.1:g.30691601A>C GRCh37
NC_000006.10:g.30799580A>C NCBI36
NG_034142.1:g.8624A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327892.13:c.762A>C MANE Select ENSP00000339001.7:p.Ala254=
ENST00000680530.1:n.1624A>C
ENST00000681421.1:n.1828A>C
ENST00000681435.1:c.546A>C ENSP00000506665.1:p.Ala182=
ENST00000327892.12:c.762A>C ENSP00000339001.7:p.Ala254=
ENST00000330914.7:c.546A>C ENSP00000365578.2:p.Ala182=
ENST00000396384.1:c.546A>C ENSP00000379668.1:p.Ala182=
ENST00000396389.5:c.708A>C ENSP00000379672.1:p.Ala236=
NM_001293212.1:c.822A>C NP_001280141.1:p.Ala274=
NM_001293213.1:c.370-214A>C NP_001280142.1:n.370-214A>C
NM_001293214.1:c.630A>C NP_001280143.1:p.Ala210=
NM_001293215.1:c.546A>C NP_001280144.1:p.Ala182=
NM_001293216.1:c.546A>C NP_001280145.1:p.Ala182=
NM_178014.3:c.762A>C NP_821133.1:p.Ala254=
NR_120608.1:n.584-115A>C
NM_178014.4:c.762A>C MANE Select NP_821133.1:p.Ala254=
NM_001293212.2:c.822A>C NP_001280141.1:p.Ala274=
NM_001293213.2:c.370-214A>C NP_001280142.1:n.370-214A>C
NM_001293214.2:c.630A>C NP_001280143.1:p.Ala210=
NM_001293215.2:c.546A>C NP_001280144.1:p.Ala182=
NM_001293216.2:c.546A>C NP_001280145.1:p.Ala182=
NR_120608.2:n.433-115A>C