Canonical Allele Identifier: CA510160225

Gene: THBD

Linked Data

• gnomAD v4: 20-23047996-G-T
• MyVariant Identifiers: chr20:g.23028633G>T (hg19)

Genomic Alleles

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

Transcript Alleles

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