Canonical Allele Identifier: CA510161258
Gene: THBD HGNC NCBI

Linked Data

ClinVar Variation Id: 765668
ClinVar RCV Id: RCV000944113
dbSNP Id: rs1168173030
gnomAD v3: 20-23049477-G-A
gnomAD v4: 20-23049477-G-A
MyVariant Identifiers: chr20:g.23030114G>A (hg19) chr20:g.23049477G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049477G>A , CM000682.2:g.23049477G>A GRCh38
NC_000020.10:g.23030114G>A , CM000682.1:g.23030114G>A GRCh37
NC_000020.9:g.22978114G>A NCBI36
NG_012027.1:g.5188C>T , LRG_168:g.5188C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.28C>T MANE Select ENSP00000366307.2:p.Leu10=
ENST00000377103.2:c.28C>T ENSP00000366307.2:p.Leu10=
NM_000361.2:c.28C>T , LRG_168t1:c.28C>T NP_000352.1:p.Leu10=
NM_000361.3:c.28C>T MANE Select NP_000352.1:p.Leu10=
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Search 100 bp 3'