Canonical Allele Identifier: CA2803836594

Gene: THBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39581324A>C , CM000677.2:g.39581324A>C	GRCh38
NC_000015.9:g.39873525A>C , CM000677.1:g.39873525A>C	GRCh37
NC_000015.8:g.37660817A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260356.6:c.-30+96A>C MANE Select	ENSP00000260356.5:n.-30+96A>C
ENST00000260356.5:c.-30+96A>C	ENSP00000260356.5:n.-30+96A>C
ENST00000397591.2:c.-151+96A>C	ENSP00000380720.2:n.-151+96A>C
NM_003246.2:c.-30+96A>C	NP_003237.2:n.-30+96A>C
NM_003246.3:c.-30+96A>C	NP_003237.2:n.-30+96A>C
XM_011521970.1:c.-151+96A>C	XP_011520272.1:n.-151+96A>C
XM_011521971.1:c.-30+96A>C	XP_011520273.1:n.-30+96A>C
XR_931897.1:n.146+96A>C
XM_011521971.2:c.-30+96A>C	XP_011520273.1:n.-30+96A>C
NM_003246.4:c.-30+96A>C MANE Select	NP_003237.2:n.-30+96A>C