Canonical Allele Identifier: CA510161067
Gene: THBD HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.23029920T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049283T>C , CM000682.2:g.23049283T>C GRCh38
NC_000020.10:g.23029920T>C , CM000682.1:g.23029920T>C GRCh37
NC_000020.9:g.22977920T>C NCBI36
NG_012027.1:g.5382A>G , LRG_168:g.5382A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.222A>G MANE Select ENSP00000366307.2:p.Leu74=
ENST00000377103.2:c.222A>G ENSP00000366307.2:p.Leu74=
NM_000361.2:c.222A>G , LRG_168t1:c.222A>G NP_000352.1:p.Leu74=
NM_000361.3:c.222A>G MANE Select NP_000352.1:p.Leu74=
Search 100 bp 5'
Search 100 bp 3'