Canonical Allele Identifier: CA712630054

Gene: THBS1

Linked Data

• dbSNP Id: rs1204819882
• gnomAD v4: 15-39581330-T-G
• MyVariant Identifiers: chr15:g.39873531T>G (hg19) ; chr15:g.39581330T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39581330T>G , CM000677.2:g.39581330T>G	GRCh38
NC_000015.9:g.39873531T>G , CM000677.1:g.39873531T>G	GRCh37
NC_000015.8:g.37660823T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260356.6:c.-30+102T>G MANE Select	ENSP00000260356.5:n.-30+102T>G
ENST00000260356.5:c.-30+102T>G	ENSP00000260356.5:n.-30+102T>G
ENST00000397591.2:c.-151+102T>G	ENSP00000380720.2:n.-151+102T>G
NM_003246.2:c.-30+102T>G	NP_003237.2:n.-30+102T>G
NM_003246.3:c.-30+102T>G	NP_003237.2:n.-30+102T>G
XM_011521970.1:c.-151+102T>G	XP_011520272.1:n.-151+102T>G
XM_011521971.1:c.-30+102T>G	XP_011520273.1:n.-30+102T>G
XR_931897.1:n.146+102T>G
XM_011521971.2:c.-30+102T>G	XP_011520273.1:n.-30+102T>G
NM_003246.4:c.-30+102T>G MANE Select	NP_003237.2:n.-30+102T>G