Canonical Allele Identifier: CA313552979
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs13306849
gnomAD v3: 20-23049562-C-A
gnomAD v4: 20-23049562-C-A
MyVariant Identifiers: chr20:g.23030199C>A (hg19) chr20:g.23049562C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049562C>A , CM000682.2:g.23049562C>A GRCh38
NC_000020.10:g.23030199C>A , CM000682.1:g.23030199C>A GRCh37
NC_000020.9:g.22978199C>A NCBI36
NG_012027.1:g.5103G>T , LRG_168:g.5103G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.-58G>T MANE Select ENSP00000366307.2:n.-58G>T
ENST00000377103.2:c.-58G>T ENSP00000366307.2:n.-58G>T
NM_000361.2:c.-58G>T , LRG_168t1:c.-58G>T NP_000352.1:n.-58G>T
NM_000361.3:c.-58G>T MANE Select NP_000352.1:n.-58G>T
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