Canonical Allele Identifier: CA449776694
Gene: TUBB HGNC NCBI

Linked Data

gnomAD v4: 6-30723890-T-C
MyVariant Identifiers: chr6:g.30691667T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30723890T>C , CM000668.2:g.30723890T>C GRCh38
NC_000006.11:g.30691667T>C , CM000668.1:g.30691667T>C GRCh37
NC_000006.10:g.30799646T>C NCBI36
NG_034142.1:g.8690T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327892.13:c.828T>C MANE Select ENSP00000339001.7:p.Arg276=
ENST00000680530.1:n.1690T>C
ENST00000681421.1:n.1894T>C
ENST00000681435.1:c.612T>C ENSP00000506665.1:p.Arg204=
ENST00000327892.12:c.828T>C ENSP00000339001.7:p.Arg276=
ENST00000330914.7:c.612T>C ENSP00000365578.2:p.Arg204=
ENST00000396384.1:c.612T>C ENSP00000379668.1:p.Arg204=
ENST00000396389.5:c.774T>C ENSP00000379672.1:p.Arg258=
NM_001293212.1:c.888T>C NP_001280141.1:p.Arg296=
NM_001293213.1:c.370-148T>C NP_001280142.1:n.370-148T>C
NM_001293214.1:c.696T>C NP_001280143.1:p.Arg232=
NM_001293215.1:c.612T>C NP_001280144.1:p.Arg204=
NM_001293216.1:c.612T>C NP_001280145.1:p.Arg204=
NM_178014.3:c.828T>C NP_821133.1:p.Arg276=
NR_120608.1:n.584-49T>C
NM_178014.4:c.828T>C MANE Select NP_821133.1:p.Arg276=
NM_001293212.2:c.888T>C NP_001280141.1:p.Arg296=
NM_001293213.2:c.370-148T>C NP_001280142.1:n.370-148T>C
NM_001293214.2:c.696T>C NP_001280143.1:p.Arg232=
NM_001293215.2:c.612T>C NP_001280144.1:p.Arg204=
NM_001293216.2:c.612T>C NP_001280145.1:p.Arg204=
NR_120608.2:n.433-49T>C