Canonical Allele Identifier: CA2652141573
Gene: THBD HGNC NCBI

Linked Data

gnomAD v4: 20-23047715-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047715C>A , CM000682.2:g.23047715C>A GRCh38
NC_000020.10:g.23028352C>A , CM000682.1:g.23028352C>A GRCh37
NC_000020.9:g.22976352C>A NCBI36
NG_012027.1:g.6950G>T , LRG_168:g.6950G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.*62G>T MANE Select ENSP00000366307.2:n.*62G>T
ENST00000377103.2:c.*62G>T ENSP00000366307.2:n.*62G>T
NM_000361.2:c.*62G>T , LRG_168t1:c.*62G>T NP_000352.1:n.*62G>T
NM_000361.3:c.*62G>T MANE Select NP_000352.1:n.*62G>T
Search 100 bp 5'
Search 100 bp 3'