Canonical Allele Identifier: CA510160375
Gene: THBD HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.23028432C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047795C>G , CM000682.2:g.23047795C>G GRCh38
NC_000020.10:g.23028432C>G , CM000682.1:g.23028432C>G GRCh37
NC_000020.9:g.22976432C>G NCBI36
NG_012027.1:g.6870G>C , LRG_168:g.6870G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1710G>C MANE Select ENSP00000366307.2:p.Arg570=
ENST00000377103.2:c.1710G>C ENSP00000366307.2:p.Arg570=
NM_000361.2:c.1710G>C , LRG_168t1:c.1710G>C NP_000352.1:p.Arg570=
NM_000361.3:c.1710G>C MANE Select NP_000352.1:p.Arg570=