Canonical Allele Identifier: CA408405085

Gene: THBD

Linked Data

• dbSNP Id: rs1984614409
• MyVariant Identifiers: chr20:g.23028488A>G (hg19) ; chr20:g.23047851A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377103.3:c.1654T>C MANE Select	ENSP00000366307.2:p.Tyr552His
ENST00000377103.2:c.1654T>C	ENSP00000366307.2:p.Tyr552His
NM_000361.2:c.1654T>C , LRG_168t1:c.1654T>C	NP_000352.1:p.Tyr552His
NM_000361.3:c.1654T>C MANE Select	NP_000352.1:p.Tyr552His