Canonical Allele Identifier: CA484028580

Gene: THSD1

Linked Data

• MyVariant Identifiers: chr13:g.52971722A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52397587A>C , CM000675.2:g.52397587A>C	GRCh38
NC_000013.10:g.52971722A>C , CM000675.1:g.52971722A>C	GRCh37
NC_000013.9:g.51869723A>C	NCBI36
NG_047168.1:g.13908T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258613.5:c.666T>G MANE Select	ENSP00000258613.4:p.Leu222=
ENST00000648254.1:c.666T>G	ENSP00000497520.1:p.Leu222=
ENST00000258613.4:c.666T>G	ENSP00000258613.4:p.Leu222=
ENST00000349258.8:c.666T>G	ENSP00000340650.4:p.Leu222=
NM_018676.3:c.666T>G	NP_061146.1:p.Leu222=
NM_199263.2:c.666T>G	NP_954872.1:p.Leu222=
NM_018676.4:c.666T>G MANE Select	NP_061146.1:p.Leu222=
NM_199263.3:c.666T>G	NP_954872.1:p.Leu222=