Canonical Allele Identifier: CA617218363

Gene: THBS1

Linked Data

• dbSNP Id: rs1193842261
• gnomAD v2: 15-39873519-G-C
• MyVariant Identifiers: chr15:g.39873519G>C (hg19) ; chr15:g.39581318G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39581318G>C , CM000677.2:g.39581318G>C	GRCh38
NC_000015.9:g.39873519G>C , CM000677.1:g.39873519G>C	GRCh37
NC_000015.8:g.37660811G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260356.6:c.-30+90G>C MANE Select	ENSP00000260356.5:n.-30+90G>C
ENST00000260356.5:c.-30+90G>C	ENSP00000260356.5:n.-30+90G>C
ENST00000397591.2:c.-151+90G>C	ENSP00000380720.2:n.-151+90G>C
NM_003246.2:c.-30+90G>C	NP_003237.2:n.-30+90G>C
NM_003246.3:c.-30+90G>C	NP_003237.2:n.-30+90G>C
XM_011521970.1:c.-151+90G>C	XP_011520272.1:n.-151+90G>C
XM_011521971.1:c.-30+90G>C	XP_011520273.1:n.-30+90G>C
XR_931897.1:n.146+90G>C
XM_011521971.2:c.-30+90G>C	XP_011520273.1:n.-30+90G>C
NM_003246.4:c.-30+90G>C MANE Select	NP_003237.2:n.-30+90G>C