Canonical Allele Identifier: CA313553007
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs1038183975
gnomAD v2: 20-23030200-G-A
gnomAD v3: 20-23049563-G-A
gnomAD v4: 20-23049563-G-A
MyVariant Identifiers: chr20:g.23030200G>A (hg19) chr20:g.23049563G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049563G>A , CM000682.2:g.23049563G>A GRCh38
NC_000020.10:g.23030200G>A , CM000682.1:g.23030200G>A GRCh37
NC_000020.9:g.22978200G>A NCBI36
NG_012027.1:g.5102C>T , LRG_168:g.5102C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.-59C>T MANE Select ENSP00000366307.2:n.-59C>T
ENST00000377103.2:c.-59C>T ENSP00000366307.2:n.-59C>T
NM_000361.2:c.-59C>T , LRG_168t1:c.-59C>T NP_000352.1:n.-59C>T
NM_000361.3:c.-59C>T MANE Select NP_000352.1:n.-59C>T
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