Canonical Allele Identifier: CA408405417
Gene: THBD HGNC NCBI

Linked Data

gnomAD v4: 20-23048016-G-C
MyVariant Identifiers: chr20:g.23028653G>C (hg19) chr20:g.23048016G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23048016G>C , CM000682.2:g.23048016G>C GRCh38
NC_000020.10:g.23028653G>C , CM000682.1:g.23028653G>C GRCh37
NC_000020.9:g.22976653G>C NCBI36
NG_012027.1:g.6649C>G , LRG_168:g.6649C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1489C>G MANE Select ENSP00000366307.2:p.Pro497Ala
ENST00000377103.2:c.1489C>G ENSP00000366307.2:p.Pro497Ala
NM_000361.2:c.1489C>G , LRG_168t1:c.1489C>G NP_000352.1:p.Pro497Ala
NM_000361.3:c.1489C>G MANE Select NP_000352.1:p.Pro497Ala
Search 100 bp 5'
Search 100 bp 3'