Canonical Allele Identifier: CA408408408

Gene: THBD

Linked Data

• MyVariant Identifiers: chr20:g.23030051C>G (hg19) ; chr20:g.23049414C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23049414C>G , CM000682.2:g.23049414C>G	GRCh38
NC_000020.10:g.23030051C>G , CM000682.1:g.23030051C>G	GRCh37
NC_000020.9:g.22978051C>G	NCBI36
NG_012027.1:g.5251G>C , LRG_168:g.5251G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377103.3:c.91G>C MANE Select	ENSP00000366307.2:p.Val31Leu
ENST00000377103.2:c.91G>C	ENSP00000366307.2:p.Val31Leu
NM_000361.2:c.91G>C , LRG_168t1:c.91G>C	NP_000352.1:p.Val31Leu
NM_000361.3:c.91G>C MANE Select	NP_000352.1:p.Val31Leu