Canonical Allele Identifier: CA510160394
Gene: THBD HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.23028441C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047804C>G , CM000682.2:g.23047804C>G GRCh38
NC_000020.10:g.23028441C>G , CM000682.1:g.23028441C>G GRCh37
NC_000020.9:g.22976441C>G NCBI36
NG_012027.1:g.6861G>C , LRG_168:g.6861G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1701G>C MANE Select ENSP00000366307.2:p.Arg567=
ENST00000377103.2:c.1701G>C ENSP00000366307.2:p.Arg567=
NM_000361.2:c.1701G>C , LRG_168t1:c.1701G>C NP_000352.1:p.Arg567=
NM_000361.3:c.1701G>C MANE Select NP_000352.1:p.Arg567=