Canonical Allele Identifier: CA9928564
Gene: TUBB1 HGNC NCBI

Linked Data

dbSNP Id: rs757224713
ExAC: 20:57599171 C / T
gnomAD v2: 20-57599171-C-T
gnomAD v4: 20-59024116-C-T
MyVariant Identifiers: chr20:g.57599171C>T (hg19) chr20:g.59024116C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.59024116C>T , CM000682.2:g.59024116C>T GRCh38
NC_000020.10:g.57599171C>T , CM000682.1:g.57599171C>T GRCh37
NC_000020.9:g.57032566C>T NCBI36
NG_023424.2:g.9863C>T , LRG_581:g.9863C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000217133.2:c.689C>T MANE Select ENSP00000217133.1:p.Ser230Phe
ENST00000217133.1:c.689C>T ENSP00000217133.1:p.Ser230Phe
NM_030773.3:c.689C>T , LRG_581t1:c.689C>T NP_110400.1:p.Ser230Phe
XM_017028085.1:c.623C>T XP_016883574.1:p.Ser208Phe
NM_030773.4:c.689C>T MANE Select NP_110400.1:p.Ser230Phe
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