Canonical Allele Identifier: CA393933698

Gene: ADAMTS17

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100132109T>C , CM000677.2:g.100132109T>C	GRCh38
NC_000015.9:g.100672314T>C , CM000677.1:g.100672314T>C	GRCh37
NC_000015.8:g.98489837T>C	NCBI36
NG_016287.1:g.214870A>G
NG_016287.2:g.214870A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268070.9:c.1619A>G MANE Select	ENSP00000268070.4:p.Glu540Gly
ENST00000568565.2:c.1619A>G	ENSP00000456161.2:p.Glu540Gly
ENST00000268070.8:c.1619A>G	ENSP00000268070.4:p.Glu540Gly
ENST00000378898.8:n.1300A>G
NM_139057.2:c.1619A>G	NP_620688.2:p.Glu540Gly
XM_005254872.2:c.1619A>G	XP_005254929.1:p.Glu540Gly
XM_011521312.1:c.1619A>G	XP_011519614.1:p.Glu540Gly
NM_139057.3:c.1619A>G	NP_620688.2:p.Glu540Gly
XM_005254872.3:c.1619A>G	XP_005254929.1:p.Glu540Gly
XM_011521312.2:c.1619A>G	XP_011519614.1:p.Glu540Gly
XM_017021973.2:c.1751A>G	XP_016877462.1:p.Glu584Gly
XM_017021974.1:c.1751A>G	XP_016877463.1:p.Glu584Gly
XM_017021975.1:c.1751A>G	XP_016877464.1:p.Glu584Gly
XM_017021976.1:c.1022A>G	XP_016877465.1:p.Glu341Gly
XM_017021977.1:c.1751A>G	XP_016877466.1:p.Glu584Gly
XM_017021978.1:c.653A>G	XP_016877467.1:p.Glu218Gly
XM_017021979.1:c.431A>G	XP_016877468.1:p.Glu144Gly
XM_017021980.1:c.431A>G	XP_016877469.1:p.Glu144Gly
XM_017021981.1:c.1751A>G	XP_016877470.1:p.Glu584Gly
XM_017021982.1:c.140A>G	XP_016877471.1:p.Glu47Gly
XM_017021983.1:c.27-15096A>G	XP_016877472.1:n.27-15096A>G
XM_017021984.1:c.890A>G	XP_016877473.1:p.Glu297Gly
XR_001751118.1:n.2773A>G
XR_001751119.1:n.2773A>G
XR_001751120.1:n.2773A>G
NM_139057.4:c.1619A>G MANE Select	NP_620688.2:p.Glu540Gly