Canonical Allele Identifier: CA2355681653
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs1984690633
gnomAD v4: 20-23049568-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049568G>A , CM000682.2:g.23049568G>A GRCh38
NC_000020.10:g.23030205G>A , CM000682.1:g.23030205G>A GRCh37
NC_000020.9:g.22978205G>A NCBI36
NG_012027.1:g.5097C>T , LRG_168:g.5097C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.-64C>T MANE Select ENSP00000366307.2:n.-64C>T
ENST00000377103.2:c.-64C>T ENSP00000366307.2:n.-64C>T
NM_000361.2:c.-64C>T , LRG_168t1:c.-64C>T NP_000352.1:n.-64C>T
NM_000361.3:c.-64C>T MANE Select NP_000352.1:n.-64C>T
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