Canonical Allele Identifier: CA2627736701
Gene: THBS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39581158C>A , CM000677.2:g.39581158C>A GRCh38
NC_000015.9:g.39873359C>A , CM000677.1:g.39873359C>A GRCh37
NC_000015.8:g.37660651C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260356.6:c.-100C>A MANE Select ENSP00000260356.5:n.-100C>A
ENST00000260356.5:c.-100C>A ENSP00000260356.5:n.-100C>A
ENST00000397591.2:c.-221C>A ENSP00000380720.2:n.-221C>A
NM_003246.2:c.-100C>A NP_003237.2:n.-100C>A
NM_003246.3:c.-100C>A NP_003237.2:n.-100C>A
XM_011521970.1:c.-221C>A XP_011520272.1:n.-221C>A
XM_011521971.1:c.-100C>A XP_011520273.1:n.-100C>A
XR_931897.1:n.76C>A
XM_011521971.2:c.-100C>A XP_011520273.1:n.-100C>A
NM_003246.4:c.-100C>A MANE Select NP_003237.2:n.-100C>A