Canonical Allele Identifier: CA256539
Gene: THBD HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.23049378C>T
GRCh37 chr20:g.23030015C>T
Revel Score:
ENST00000377103 (MANE Select) 0.014
gnomAD v2:
20:23030015 C / T
gnomAD v3:
20:23049378 C / T
gnomAD v4:
chr20-23049378-C-T
Joint Max Group AF 0.00445796 (NFE)
Genomes Max Group AF 0.00361213 (NFE)
Exomes Max Group AF 0.00448875 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049378C>T , CM000682.2:g.23049378C>T GRCh38
NC_000020.10:g.23030015C>T , CM000682.1:g.23030015C>T GRCh37
NC_000020.9:g.22978015C>T NCBI36
NG_012027.1:g.5287G>A , LRG_168:g.5287G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.127G>A MANE Select ENSP00000366307.2:p.Ala43Thr
ENST00000377103.2:c.127G>A ENSP00000366307.2:p.Ala43Thr
NM_000361.2:c.127G>A , LRG_168t1:c.127G>A NP_000352.1:p.Ala43Thr
NM_000361.3:c.127G>A MANE Select NP_000352.1:p.Ala43Thr
Search 100 bp 5'
Search 100 bp 3'