Canonical Allele Identifier: CA408405127
Gene: THBD HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.23028508G>C (hg19) chr20:g.23047871G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047871G>C , CM000682.2:g.23047871G>C GRCh38
NC_000020.10:g.23028508G>C , CM000682.1:g.23028508G>C GRCh37
NC_000020.9:g.22976508G>C NCBI36
NG_012027.1:g.6794C>G , LRG_168:g.6794C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1634C>G MANE Select ENSP00000366307.2:p.Ala545Gly
ENST00000377103.2:c.1634C>G ENSP00000366307.2:p.Ala545Gly
NM_000361.2:c.1634C>G , LRG_168t1:c.1634C>G NP_000352.1:p.Ala545Gly
NM_000361.3:c.1634C>G MANE Select NP_000352.1:p.Ala545Gly
Search 100 bp 5'
Search 100 bp 3'