Canonical Allele Identifier: CA510160215

Gene: THBD

Linked Data

• gnomAD v4: 20-23047990-C-T
• MyVariant Identifiers: chr20:g.23028627C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23047990C>T , CM000682.2:g.23047990C>T	GRCh38
NC_000020.10:g.23028627C>T , CM000682.1:g.23028627C>T	GRCh37
NC_000020.9:g.22976627C>T	NCBI36
NG_012027.1:g.6675G>A , LRG_168:g.6675G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000377103.3:c.1515G>A MANE Select	ENSP00000366307.2:p.Leu505=
ENST00000377103.2:c.1515G>A	ENSP00000366307.2:p.Leu505=
NM_000361.2:c.1515G>A , LRG_168t1:c.1515G>A	NP_000352.1:p.Leu505=
NM_000361.3:c.1515G>A MANE Select	NP_000352.1:p.Leu505=