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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA409467814
Gene: TUBB1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr20:g.57599345A>T (hg19)
chr20:g.59024290A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.59024290A>T , CM000682.2:g.59024290A>T
GRCh38
NC_000020.10:g.57599345A>T , CM000682.1:g.57599345A>T
GRCh37
NC_000020.9:g.57032740A>T
NCBI36
NG_023424.2:g.10037A>T , LRG_581:g.10037A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000217133.2:c.863A>T
MANE Select
ENSP00000217133.1:p.Glu288Val
ENST00000217133.1:c.863A>T
ENSP00000217133.1:p.Glu288Val
NM_030773.3:c.863A>T , LRG_581t1:c.863A>T
NP_110400.1:p.Glu288Val
XM_017028085.1:c.797A>T
XP_016883574.1:p.Glu266Val
NM_030773.4:c.863A>T
MANE Select
NP_110400.1:p.Glu288Val
Search 100 bp 5'
Search 100 bp 3'