Canonical Allele Identifier: CA742235746
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs1406525370
gnomAD v3: 20-23049555-A-T
gnomAD v4: 20-23049555-A-T
MyVariant Identifiers: chr20:g.23030192A>T (hg19) chr20:g.23049555A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049555A>T , CM000682.2:g.23049555A>T GRCh38
NC_000020.10:g.23030192A>T , CM000682.1:g.23030192A>T GRCh37
NC_000020.9:g.22978192A>T NCBI36
NG_012027.1:g.5110T>A , LRG_168:g.5110T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.-51T>A MANE Select ENSP00000366307.2:n.-51T>A
ENST00000377103.2:c.-51T>A ENSP00000366307.2:n.-51T>A
NM_000361.2:c.-51T>A , LRG_168t1:c.-51T>A NP_000352.1:n.-51T>A
NM_000361.3:c.-51T>A MANE Select NP_000352.1:n.-51T>A
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