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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:
CA462575132
Gene: TRHR
HGNC
NCBI
Linked Data
dbSNP Id:
rs769794580
gnomAD v3:
8-109087566-A-G
gnomAD v4:
8-109087566-A-G
MyVariant Identifiers:
chr8:g.110099795A>G (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.109087566A>G , CM000670.2:g.109087566A>G
GRCh38
NC_000008.10:g.110099795A>G , CM000670.1:g.110099795A>G
GRCh37
NC_000008.9:g.110168971A>G
NCBI36
NG_017161.1:g.5120A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000518632.2:c.54A>G
MANE Select
ENSP00000430711.2:p.Ala18=
ENST00000311762.2:c.54A>G
ENSP00000309818.2:p.Ala18=
ENST00000518632.1:c.54A>G
ENSP00000430711.1:p.Ala18=
NM_003301.5:c.54A>G
NP_003292.1:p.Ala18=
XM_011517263.1:c.54A>G
XP_011515565.1:p.Ala18=
XM_011517263.2:c.54A>G
XP_011515565.1:p.Ala18=
NM_003301.7:c.54A>G
MANE Select
NP_003292.1:p.Ala18=
Search 100 bp 5'
Search 100 bp 3'