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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:
CA370698926
Gene: STAR
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr8:g.38003521T>C (hg19)
chr8:g.38146003T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.38146003T>C , CM000670.2:g.38146003T>C
GRCh38
NC_000008.10:g.38003521T>C , CM000670.1:g.38003521T>C
GRCh37
NC_000008.9:g.38122678T>C
NCBI36
NG_011827.1:g.10080A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000276449.9:c.610A>G
MANE Select
ENSP00000276449.3:p.Thr204Ala
ENST00000276449.8:c.610A>G
ENSP00000276449.3:p.Thr204Ala
ENST00000520114.1:n.1097A>G
ENST00000522050.1:c.546A>G
NM_000349.2:c.610A>G
NP_000340.2:p.Thr204Ala
XM_006716392.1:c.610A>G
XP_006716455.1:p.Thr204Ala
NM_000349.3:c.610A>G
MANE Select
NP_000340.2:p.Thr204Ala
Search 100 bp 5'
Search 100 bp 3'