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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:
CA341754579
Gene: TSHB
HGNC
NCBI
Linked Data
dbSNP Id:
rs1674935846
MyVariant Identifiers:
chr1:g.115576003T>C (hg19)
chr1:g.115033382T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.115033382T>C , CM000663.2:g.115033382T>C
GRCh38
NC_000001.10:g.115576003T>C , CM000663.1:g.115576003T>C
GRCh37
NC_000001.9:g.115377526T>C
NCBI36
NG_015891.1:g.8589T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000256592.3:c.20T>C
MANE Select
ENSP00000256592.1:p.Met7Thr
ENST00000256592.2:c.20T>C
ENSP00000256592.1:p.Met7Thr
ENST00000369517.1:c.20T>C
ENSP00000358530.1:p.Met7Thr
NM_000549.4:c.20T>C
NP_000540.2:p.Met7Thr
XM_011542065.1:c.20T>C
XP_011540367.1:p.Met7Thr
XM_011542065.2:c.20T>C
XP_011540367.1:p.Met7Thr
NM_000549.5:c.20T>C
MANE Select
NP_000540.2:p.Met7Thr
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