Canonical Allele Identifier: CA2627736668
Gene: THBS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39581134C>A , CM000677.2:g.39581134C>A GRCh38
NC_000015.9:g.39873335C>A , CM000677.1:g.39873335C>A GRCh37
NC_000015.8:g.37660627C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260356.6:c.-124C>A MANE Select ENSP00000260356.5:n.-124C>A
ENST00000260356.5:c.-124C>A ENSP00000260356.5:n.-124C>A
ENST00000397591.2:c.-245C>A ENSP00000380720.2:n.-245C>A
NM_003246.2:c.-124C>A NP_003237.2:n.-124C>A
NM_003246.3:c.-124C>A NP_003237.2:n.-124C>A
XM_011521970.1:c.-245C>A XP_011520272.1:n.-245C>A
XM_011521971.1:c.-124C>A XP_011520273.1:n.-124C>A
XR_931897.1:n.52C>A
XM_011521971.2:c.-124C>A XP_011520273.1:n.-124C>A
NM_003246.4:c.-124C>A MANE Select NP_003237.2:n.-124C>A