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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:
CA256539
Gene: THBD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12718
ClinVar RCV Id:
RCV000013555
RCV000886689
RCV001328105
RCV001818154
RCV003914835
dbSNP Id:
rs1800576
ExAC:
20:23030015 C / T
gnomAD v2:
20-23030015-C-T
gnomAD v3:
20-23049378-C-T
gnomAD v4:
20-23049378-C-T
MyVariant Identifiers:
chr20:g.23030015C>T (hg19)
chr20:g.23049378C>T (hg38)
PubMed:
PMID:9198186
PMID:17677000
PMID:18035074
PMID:19625716
PMID:20590502
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.23049378C>T , CM000682.2:g.23049378C>T
GRCh38
NC_000020.10:g.23030015C>T , CM000682.1:g.23030015C>T
GRCh37
NC_000020.9:g.22978015C>T
NCBI36
NG_012027.1:g.5287G>A , LRG_168:g.5287G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000377103.3:c.127G>A
MANE Select
ENSP00000366307.2:p.Ala43Thr
ENST00000377103.2:c.127G>A
ENSP00000366307.2:p.Ala43Thr
NM_000361.2:c.127G>A , LRG_168t1:c.127G>A
NP_000352.1:p.Ala43Thr
NM_000361.3:c.127G>A
MANE Select
NP_000352.1:p.Ala43Thr
Search 100 bp 5'
Search 100 bp 3'