Canonical Allele Identifier: CA2652141613
Gene: THBD HGNC NCBI

Linked Data

gnomAD v4: 20-23047754-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047754C>T , CM000682.2:g.23047754C>T GRCh38
NC_000020.10:g.23028391C>T , CM000682.1:g.23028391C>T GRCh37
NC_000020.9:g.22976391C>T NCBI36
NG_012027.1:g.6911G>A , LRG_168:g.6911G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.*23G>A MANE Select ENSP00000366307.2:n.*23G>A
ENST00000377103.2:c.*23G>A ENSP00000366307.2:n.*23G>A
NM_000361.2:c.*23G>A , LRG_168t1:c.*23G>A NP_000352.1:n.*23G>A
NM_000361.3:c.*23G>A MANE Select NP_000352.1:n.*23G>A
Search 100 bp 5'
Search 100 bp 3'