Canonical Allele Identifier: CA408408140

Gene: THBD

Linked Data

• MyVariant Identifiers: chr20:g.23029924A>T (hg19) ; chr20:g.23049287A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23049287A>T , CM000682.2:g.23049287A>T	GRCh38
NC_000020.10:g.23029924A>T , CM000682.1:g.23029924A>T	GRCh37
NC_000020.9:g.22977924A>T	NCBI36
NG_012027.1:g.5378T>A , LRG_168:g.5378T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000377103.3:c.218T>A MANE Select	ENSP00000366307.2:p.Leu73Ter
ENST00000377103.2:c.218T>A	ENSP00000366307.2:p.Leu73Ter
NM_000361.2:c.218T>A , LRG_168t1:c.218T>A	NP_000352.1:p.Leu73Ter
NM_000361.3:c.218T>A MANE Select	NP_000352.1:p.Leu73Ter