Canonical Allele Identifier: CA408405091

Gene: THBD

Linked Data

• MyVariant Identifiers: chr20:g.23028491C>A (hg19) ; chr20:g.23047854C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23047854C>A , CM000682.2:g.23047854C>A	GRCh38
NC_000020.10:g.23028491C>A , CM000682.1:g.23028491C>A	GRCh37
NC_000020.9:g.22976491C>A	NCBI36
NG_012027.1:g.6811G>T , LRG_168:g.6811G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377103.3:c.1651G>T MANE Select	ENSP00000366307.2:p.Glu551Ter
ENST00000377103.2:c.1651G>T	ENSP00000366307.2:p.Glu551Ter
NM_000361.2:c.1651G>T , LRG_168t1:c.1651G>T	NP_000352.1:p.Glu551Ter
NM_000361.3:c.1651G>T MANE Select	NP_000352.1:p.Glu551Ter