Canonical Allele Identifier: CA2627736683
Gene: THBS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39581143C>T , CM000677.2:g.39581143C>T GRCh38
NC_000015.9:g.39873344C>T , CM000677.1:g.39873344C>T GRCh37
NC_000015.8:g.37660636C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260356.6:c.-115C>T MANE Select ENSP00000260356.5:n.-115C>T
ENST00000260356.5:c.-115C>T ENSP00000260356.5:n.-115C>T
ENST00000397591.2:c.-236C>T ENSP00000380720.2:n.-236C>T
NM_003246.2:c.-115C>T NP_003237.2:n.-115C>T
NM_003246.3:c.-115C>T NP_003237.2:n.-115C>T
XM_011521970.1:c.-236C>T XP_011520272.1:n.-236C>T
XM_011521971.1:c.-115C>T XP_011520273.1:n.-115C>T
XR_931897.1:n.61C>T
XM_011521971.2:c.-115C>T XP_011520273.1:n.-115C>T
NM_003246.4:c.-115C>T MANE Select NP_003237.2:n.-115C>T