Canonical Allele Identifier: CA409467583
Gene: TUBB1 HGNC NCBI

Linked Data

dbSNP Id: rs1361659405
gnomAD v4: 20-59024178-C-A
MyVariant Identifiers: chr20:g.57599233C>A (hg19) chr20:g.59024178C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.59024178C>A , CM000682.2:g.59024178C>A GRCh38
NC_000020.10:g.57599233C>A , CM000682.1:g.57599233C>A GRCh37
NC_000020.9:g.57032628C>A NCBI36
NG_023424.2:g.9925C>A , LRG_581:g.9925C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000217133.2:c.751C>A MANE Select ENSP00000217133.1:p.Arg251Ser
ENST00000217133.1:c.751C>A ENSP00000217133.1:p.Arg251Ser
NM_030773.3:c.751C>A , LRG_581t1:c.751C>A NP_110400.1:p.Arg251Ser
XM_017028085.1:c.685C>A XP_016883574.1:p.Arg229Ser
NM_030773.4:c.751C>A MANE Select NP_110400.1:p.Arg251Ser
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