Canonical Allele Identifier: CA408405085
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs1984614409
MyVariant Identifiers: chr20:g.23028488A>G (hg19) chr20:g.23047851A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047851A>G , CM000682.2:g.23047851A>G GRCh38
NC_000020.10:g.23028488A>G , CM000682.1:g.23028488A>G GRCh37
NC_000020.9:g.22976488A>G NCBI36
NG_012027.1:g.6814T>C , LRG_168:g.6814T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1654T>C MANE Select ENSP00000366307.2:p.Tyr552His
ENST00000377103.2:c.1654T>C ENSP00000366307.2:p.Tyr552His
NM_000361.2:c.1654T>C , LRG_168t1:c.1654T>C NP_000352.1:p.Tyr552His
NM_000361.3:c.1654T>C MANE Select NP_000352.1:p.Tyr552His
Search 100 bp 5'
Search 100 bp 3'