Canonical Allele Identifier: CA393933688

Gene: ADAMTS17

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100132104C>T , CM000677.2:g.100132104C>T	GRCh38
NC_000015.9:g.100672309C>T , CM000677.1:g.100672309C>T	GRCh37
NC_000015.8:g.98489832C>T	NCBI36
NG_016287.1:g.214875G>A
NG_016287.2:g.214875G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268070.9:c.1624G>A MANE Select	ENSP00000268070.4:p.Val542Met
ENST00000568565.2:c.1624G>A	ENSP00000456161.2:p.Val542Met
ENST00000268070.8:c.1624G>A	ENSP00000268070.4:p.Val542Met
ENST00000378898.8:n.1305G>A
NM_139057.2:c.1624G>A	NP_620688.2:p.Val542Met
XM_005254872.2:c.1624G>A	XP_005254929.1:p.Val542Met
XM_011521312.1:c.1624G>A	XP_011519614.1:p.Val542Met
NM_139057.3:c.1624G>A	NP_620688.2:p.Val542Met
XM_005254872.3:c.1624G>A	XP_005254929.1:p.Val542Met
XM_011521312.2:c.1624G>A	XP_011519614.1:p.Val542Met
XM_017021973.2:c.1756G>A	XP_016877462.1:p.Val586Met
XM_017021974.1:c.1756G>A	XP_016877463.1:p.Val586Met
XM_017021975.1:c.1756G>A	XP_016877464.1:p.Val586Met
XM_017021976.1:c.1027G>A	XP_016877465.1:p.Val343Met
XM_017021977.1:c.1756G>A	XP_016877466.1:p.Val586Met
XM_017021978.1:c.658G>A	XP_016877467.1:p.Val220Met
XM_017021979.1:c.436G>A	XP_016877468.1:p.Val146Met
XM_017021980.1:c.436G>A	XP_016877469.1:p.Val146Met
XM_017021981.1:c.1756G>A	XP_016877470.1:p.Val586Met
XM_017021982.1:c.145G>A	XP_016877471.1:p.Val49Met
XM_017021983.1:c.27-15091G>A	XP_016877472.1:n.27-15091G>A
XM_017021984.1:c.895G>A	XP_016877473.1:p.Val299Met
XR_001751118.1:n.2778G>A
XR_001751119.1:n.2778G>A
XR_001751120.1:n.2778G>A
NM_139057.4:c.1624G>A MANE Select	NP_620688.2:p.Val542Met