Canonical Allele Identifier: CA2627736787

Gene: THBS1

Linked Data

• gnomAD v4: 15-39581220-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39581220T>C , CM000677.2:g.39581220T>C	GRCh38
NC_000015.9:g.39873421T>C , CM000677.1:g.39873421T>C	GRCh37
NC_000015.8:g.37660713T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260356.6:c.-38T>C MANE Select	ENSP00000260356.5:n.-38T>C
ENST00000260356.5:c.-38T>C	ENSP00000260356.5:n.-38T>C
ENST00000397591.2:c.-159T>C	ENSP00000380720.2:n.-159T>C
NM_003246.2:c.-38T>C	NP_003237.2:n.-38T>C
NM_003246.3:c.-38T>C	NP_003237.2:n.-38T>C
XM_011521970.1:c.-159T>C	XP_011520272.1:n.-159T>C
XM_011521971.1:c.-38T>C	XP_011520273.1:n.-38T>C
XR_931897.1:n.138T>C
XM_011521971.2:c.-38T>C	XP_011520273.1:n.-38T>C
NM_003246.4:c.-38T>C MANE Select	NP_003237.2:n.-38T>C