Canonical Allele Identifier: CA510161055
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs1428728247
gnomAD v3: 20-23049280-C-T
gnomAD v4: 20-23049280-C-T
MyVariant Identifiers: chr20:g.23029917C>T (hg19) chr20:g.23049280C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049280C>T , CM000682.2:g.23049280C>T GRCh38
NC_000020.10:g.23029917C>T , CM000682.1:g.23029917C>T GRCh37
NC_000020.9:g.22977917C>T NCBI36
NG_012027.1:g.5385G>A , LRG_168:g.5385G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.225G>A MANE Select ENSP00000366307.2:p.Leu75=
ENST00000377103.2:c.225G>A ENSP00000366307.2:p.Leu75=
NM_000361.2:c.225G>A , LRG_168t1:c.225G>A NP_000352.1:p.Leu75=
NM_000361.3:c.225G>A MANE Select NP_000352.1:p.Leu75=
Search 100 bp 5'
Search 100 bp 3'