Canonical Allele Identifier: CA408408005

Gene: THBD

Linked Data

• MyVariant Identifiers: chr20:g.23029855C>G (hg19) ; chr20:g.23049218C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23049218C>G , CM000682.2:g.23049218C>G	GRCh38
NC_000020.10:g.23029855C>G , CM000682.1:g.23029855C>G	GRCh37
NC_000020.9:g.22977855C>G	NCBI36
NG_012027.1:g.5447G>C , LRG_168:g.5447G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377103.3:c.287G>C MANE Select	ENSP00000366307.2:p.Cys96Ser
ENST00000377103.2:c.287G>C	ENSP00000366307.2:p.Cys96Ser
NM_000361.2:c.287G>C , LRG_168t1:c.287G>C	NP_000352.1:p.Cys96Ser
NM_000361.3:c.287G>C MANE Select	NP_000352.1:p.Cys96Ser