Canonical Allele Identifier: CA510161269
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs376209282
gnomAD v3: 20-23049490-C-G
gnomAD v4: 20-23049490-C-G
MyVariant Identifiers: chr20:g.23030127C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049490C>G , CM000682.2:g.23049490C>G GRCh38
NC_000020.10:g.23030127C>G , CM000682.1:g.23030127C>G GRCh37
NC_000020.9:g.22978127C>G NCBI36
NG_012027.1:g.5175G>C , LRG_168:g.5175G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.15G>C MANE Select ENSP00000366307.2:p.Leu5=
ENST00000377103.2:c.15G>C ENSP00000366307.2:p.Leu5=
NM_000361.2:c.15G>C , LRG_168t1:c.15G>C NP_000352.1:p.Leu5=
NM_000361.3:c.15G>C MANE Select NP_000352.1:p.Leu5=
Search 100 bp 5'
Search 100 bp 3'