Canonical Allele Identifier: CA393933700

Gene: ADAMTS17

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100132110C>A , CM000677.2:g.100132110C>A	GRCh38
NC_000015.9:g.100672315C>A , CM000677.1:g.100672315C>A	GRCh37
NC_000015.8:g.98489838C>A	NCBI36
NG_016287.1:g.214869G>T
NG_016287.2:g.214869G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268070.9:c.1618G>T MANE Select	ENSP00000268070.4:p.Glu540Ter
ENST00000568565.2:c.1618G>T	ENSP00000456161.2:p.Glu540Ter
ENST00000268070.8:c.1618G>T	ENSP00000268070.4:p.Glu540Ter
ENST00000378898.8:n.1299G>T
NM_139057.2:c.1618G>T	NP_620688.2:p.Glu540Ter
XM_005254872.2:c.1618G>T	XP_005254929.1:p.Glu540Ter
XM_011521312.1:c.1618G>T	XP_011519614.1:p.Glu540Ter
NM_139057.3:c.1618G>T	NP_620688.2:p.Glu540Ter
XM_005254872.3:c.1618G>T	XP_005254929.1:p.Glu540Ter
XM_011521312.2:c.1618G>T	XP_011519614.1:p.Glu540Ter
XM_017021973.2:c.1750G>T	XP_016877462.1:p.Glu584Ter
XM_017021974.1:c.1750G>T	XP_016877463.1:p.Glu584Ter
XM_017021975.1:c.1750G>T	XP_016877464.1:p.Glu584Ter
XM_017021976.1:c.1021G>T	XP_016877465.1:p.Glu341Ter
XM_017021977.1:c.1750G>T	XP_016877466.1:p.Glu584Ter
XM_017021978.1:c.652G>T	XP_016877467.1:p.Glu218Ter
XM_017021979.1:c.430G>T	XP_016877468.1:p.Glu144Ter
XM_017021980.1:c.430G>T	XP_016877469.1:p.Glu144Ter
XM_017021981.1:c.1750G>T	XP_016877470.1:p.Glu584Ter
XM_017021982.1:c.139G>T	XP_016877471.1:p.Glu47Ter
XM_017021983.1:c.27-15097G>T	XP_016877472.1:n.27-15097G>T
XM_017021984.1:c.889G>T	XP_016877473.1:p.Glu297Ter
XR_001751118.1:n.2772G>T
XR_001751119.1:n.2772G>T
XR_001751120.1:n.2772G>T
NM_139057.4:c.1618G>T MANE Select	NP_620688.2:p.Glu540Ter