Canonical Allele Identifier: CA510160223

Gene: THBD

Linked Data

• MyVariant Identifiers: chr20:g.23028633G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23047996G>A , CM000682.2:g.23047996G>A	GRCh38
NC_000020.10:g.23028633G>A , CM000682.1:g.23028633G>A	GRCh37
NC_000020.9:g.22976633G>A	NCBI36
NG_012027.1:g.6669C>T , LRG_168:g.6669C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000377103.3:c.1509C>T MANE Select	ENSP00000366307.2:p.Ser503=
ENST00000377103.2:c.1509C>T	ENSP00000366307.2:p.Ser503=
NM_000361.2:c.1509C>T , LRG_168t1:c.1509C>T	NP_000352.1:p.Ser503=
NM_000361.3:c.1509C>T MANE Select	NP_000352.1:p.Ser503=