Canonical Allele Identifier: CA408405150

Gene: THBD

Linked Data

• MyVariant Identifiers: chr20:g.23028517T>G (hg19) ; chr20:g.23047880T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23047880T>G , CM000682.2:g.23047880T>G	GRCh38
NC_000020.10:g.23028517T>G , CM000682.1:g.23028517T>G	GRCh37
NC_000020.9:g.22976517T>G	NCBI36
NG_012027.1:g.6785A>C , LRG_168:g.6785A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377103.3:c.1625A>C MANE Select	ENSP00000366307.2:p.Lys542Thr
ENST00000377103.2:c.1625A>C	ENSP00000366307.2:p.Lys542Thr
NM_000361.2:c.1625A>C , LRG_168t1:c.1625A>C	NP_000352.1:p.Lys542Thr
NM_000361.3:c.1625A>C MANE Select	NP_000352.1:p.Lys542Thr