Canonical Allele Identifier: CA510161161
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs1469286596
gnomAD v3: 20-23049379-G-T
gnomAD v4: 20-23049379-G-T
MyVariant Identifiers: chr20:g.23030016G>T (hg19) chr20:g.23049379G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049379G>T , CM000682.2:g.23049379G>T GRCh38
NC_000020.10:g.23030016G>T , CM000682.1:g.23030016G>T GRCh37
NC_000020.9:g.22978016G>T NCBI36
NG_012027.1:g.5286C>A , LRG_168:g.5286C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.126C>A MANE Select ENSP00000366307.2:p.Pro42=
ENST00000377103.2:c.126C>A ENSP00000366307.2:p.Pro42=
NM_000361.2:c.126C>A , LRG_168t1:c.126C>A NP_000352.1:p.Pro42=
NM_000361.3:c.126C>A MANE Select NP_000352.1:p.Pro42=
Search 100 bp 5'
Search 100 bp 3'