Canonical Allele Identifier: CA2627736744
Gene: THBS1 HGNC NCBI

Linked Data

gnomAD v4: 15-39581188-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39581188C>A , CM000677.2:g.39581188C>A GRCh38
NC_000015.9:g.39873389C>A , CM000677.1:g.39873389C>A GRCh37
NC_000015.8:g.37660681C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260356.6:c.-70C>A MANE Select ENSP00000260356.5:n.-70C>A
ENST00000260356.5:c.-70C>A ENSP00000260356.5:n.-70C>A
ENST00000397591.2:c.-191C>A ENSP00000380720.2:n.-191C>A
NM_003246.2:c.-70C>A NP_003237.2:n.-70C>A
NM_003246.3:c.-70C>A NP_003237.2:n.-70C>A
XM_011521970.1:c.-191C>A XP_011520272.1:n.-191C>A
XM_011521971.1:c.-70C>A XP_011520273.1:n.-70C>A
XR_931897.1:n.106C>A
XM_011521971.2:c.-70C>A XP_011520273.1:n.-70C>A
NM_003246.4:c.-70C>A MANE Select NP_003237.2:n.-70C>A
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