Canonical Allele Identifier: CA408405084

Gene: THBD

Linked Data

• MyVariant Identifiers: chr20:g.23028488A>C (hg19) ; chr20:g.23047851A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23047851A>C , CM000682.2:g.23047851A>C	GRCh38
NC_000020.10:g.23028488A>C , CM000682.1:g.23028488A>C	GRCh37
NC_000020.9:g.22976488A>C	NCBI36
NG_012027.1:g.6814T>G , LRG_168:g.6814T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377103.3:c.1654T>G MANE Select	ENSP00000366307.2:p.Tyr552Asp
ENST00000377103.2:c.1654T>G	ENSP00000366307.2:p.Tyr552Asp
NM_000361.2:c.1654T>G , LRG_168t1:c.1654T>G	NP_000352.1:p.Tyr552Asp
NM_000361.3:c.1654T>G MANE Select	NP_000352.1:p.Tyr552Asp