Canonical Allele Identifier: CA2627736714
Gene: THBS1 HGNC NCBI

Linked Data

gnomAD v4: 15-39581168-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39581168G>A , CM000677.2:g.39581168G>A GRCh38
NC_000015.9:g.39873369G>A , CM000677.1:g.39873369G>A GRCh37
NC_000015.8:g.37660661G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260356.6:c.-90G>A MANE Select ENSP00000260356.5:n.-90G>A
ENST00000260356.5:c.-90G>A ENSP00000260356.5:n.-90G>A
ENST00000397591.2:c.-211G>A ENSP00000380720.2:n.-211G>A
NM_003246.2:c.-90G>A NP_003237.2:n.-90G>A
NM_003246.3:c.-90G>A NP_003237.2:n.-90G>A
XM_011521970.1:c.-211G>A XP_011520272.1:n.-211G>A
XM_011521971.1:c.-90G>A XP_011520273.1:n.-90G>A
XR_931897.1:n.86G>A
XM_011521971.2:c.-90G>A XP_011520273.1:n.-90G>A
NM_003246.4:c.-90G>A MANE Select NP_003237.2:n.-90G>A
Search 100 bp 5'
Search 100 bp 3'