Canonical Allele Identifier: CA388038440

Gene: THSD1

Linked Data

• dbSNP Id: rs1198311455
• gnomAD v2: 13-52971913-G-C
• gnomAD v4: 13-52397778-G-C
• MyVariant Identifiers: chr13:g.52971913G>C (hg19) ; chr13:g.52397778G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52397778G>C , CM000675.2:g.52397778G>C	GRCh38
NC_000013.10:g.52971913G>C , CM000675.1:g.52971913G>C	GRCh37
NC_000013.9:g.51869914G>C	NCBI36
NG_047168.1:g.13717C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258613.5:c.475C>G MANE Select	ENSP00000258613.4:p.Pro159Ala
ENST00000648254.1:c.475C>G	ENSP00000497520.1:p.Pro159Ala
ENST00000258613.4:c.475C>G	ENSP00000258613.4:p.Pro159Ala
ENST00000349258.8:c.475C>G	ENSP00000340650.4:p.Pro159Ala
NM_018676.3:c.475C>G	NP_061146.1:p.Pro159Ala
NM_199263.2:c.475C>G	NP_954872.1:p.Pro159Ala
NM_018676.4:c.475C>G MANE Select	NP_061146.1:p.Pro159Ala
NM_199263.3:c.475C>G	NP_954872.1:p.Pro159Ala