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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:
CA341754592
Gene: TSHB
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr1:g.115576006C>A (hg19)
chr1:g.115033385C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.115033385C>A , CM000663.2:g.115033385C>A
GRCh38
NC_000001.10:g.115576006C>A , CM000663.1:g.115576006C>A
GRCh37
NC_000001.9:g.115377529C>A
NCBI36
NG_015891.1:g.8592C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000256592.3:c.23C>A
MANE Select
ENSP00000256592.1:p.Ser8Tyr
ENST00000256592.2:c.23C>A
ENSP00000256592.1:p.Ser8Tyr
ENST00000369517.1:c.23C>A
ENSP00000358530.1:p.Ser8Tyr
NM_000549.4:c.23C>A
NP_000540.2:p.Ser8Tyr
XM_011542065.1:c.23C>A
XP_011540367.1:p.Ser8Tyr
XM_011542065.2:c.23C>A
XP_011540367.1:p.Ser8Tyr
NM_000549.5:c.23C>A
MANE Select
NP_000540.2:p.Ser8Tyr
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