Canonical Allele Identifier: CA408408122
Gene: THBD HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.23029915T>A (hg19) chr20:g.23049278T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049278T>A , CM000682.2:g.23049278T>A GRCh38
NC_000020.10:g.23029915T>A , CM000682.1:g.23029915T>A GRCh37
NC_000020.9:g.22977915T>A NCBI36
NG_012027.1:g.5387A>T , LRG_168:g.5387A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.227A>T MANE Select ENSP00000366307.2:p.Asn76Ile
ENST00000377103.2:c.227A>T ENSP00000366307.2:p.Asn76Ile
NM_000361.2:c.227A>T , LRG_168t1:c.227A>T NP_000352.1:p.Asn76Ile
NM_000361.3:c.227A>T MANE Select NP_000352.1:p.Asn76Ile
Search 100 bp 5'
Search 100 bp 3'