Canonical Allele Identifier: CA408405000

Gene: THBD

Linked Data

• MyVariant Identifiers: chr20:g.23028448T>A (hg19) ; chr20:g.23047811T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23047811T>A , CM000682.2:g.23047811T>A	GRCh38
NC_000020.10:g.23028448T>A , CM000682.1:g.23028448T>A	GRCh37
NC_000020.9:g.22976448T>A	NCBI36
NG_012027.1:g.6854A>T , LRG_168:g.6854A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377103.3:c.1694A>T MANE Select	ENSP00000366307.2:p.His565Leu
ENST00000377103.2:c.1694A>T	ENSP00000366307.2:p.His565Leu
NM_000361.2:c.1694A>T , LRG_168t1:c.1694A>T	NP_000352.1:p.His565Leu
NM_000361.3:c.1694A>T MANE Select	NP_000352.1:p.His565Leu