Canonical Allele Identifier: CA635265793
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs1399455567
gnomAD v2: 20-23030204-C-T
gnomAD v3: 20-23049567-C-T
gnomAD v4: 20-23049567-C-T
MyVariant Identifiers: chr20:g.23030204C>T (hg19) chr20:g.23049567C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049567C>T , CM000682.2:g.23049567C>T GRCh38
NC_000020.10:g.23030204C>T , CM000682.1:g.23030204C>T GRCh37
NC_000020.9:g.22978204C>T NCBI36
NG_012027.1:g.5098G>A , LRG_168:g.5098G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.-63G>A MANE Select ENSP00000366307.2:n.-63G>A
ENST00000377103.2:c.-63G>A ENSP00000366307.2:n.-63G>A
NM_000361.2:c.-63G>A , LRG_168t1:c.-63G>A NP_000352.1:n.-63G>A
NM_000361.3:c.-63G>A MANE Select NP_000352.1:n.-63G>A
Search 100 bp 5'
Search 100 bp 3'