Canonical Allele Identifier: CA393933681

Gene: ADAMTS17

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100132101C>T , CM000677.2:g.100132101C>T	GRCh38
NC_000015.9:g.100672306C>T , CM000677.1:g.100672306C>T	GRCh37
NC_000015.8:g.98489829C>T	NCBI36
NG_016287.1:g.214878G>A
NG_016287.2:g.214878G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268070.9:c.1627G>A MANE Select	ENSP00000268070.4:p.Asp543Asn
ENST00000568565.2:c.1627G>A	ENSP00000456161.2:p.Asp543Asn
ENST00000268070.8:c.1627G>A	ENSP00000268070.4:p.Asp543Asn
ENST00000378898.8:n.1308G>A
NM_139057.2:c.1627G>A	NP_620688.2:p.Asp543Asn
XM_005254872.2:c.1627G>A	XP_005254929.1:p.Asp543Asn
XM_011521312.1:c.1627G>A	XP_011519614.1:p.Asp543Asn
NM_139057.3:c.1627G>A	NP_620688.2:p.Asp543Asn
XM_005254872.3:c.1627G>A	XP_005254929.1:p.Asp543Asn
XM_011521312.2:c.1627G>A	XP_011519614.1:p.Asp543Asn
XM_017021973.2:c.1759G>A	XP_016877462.1:p.Asp587Asn
XM_017021974.1:c.1759G>A	XP_016877463.1:p.Asp587Asn
XM_017021975.1:c.1759G>A	XP_016877464.1:p.Asp587Asn
XM_017021976.1:c.1030G>A	XP_016877465.1:p.Asp344Asn
XM_017021977.1:c.1759G>A	XP_016877466.1:p.Asp587Asn
XM_017021978.1:c.661G>A	XP_016877467.1:p.Asp221Asn
XM_017021979.1:c.439G>A	XP_016877468.1:p.Asp147Asn
XM_017021980.1:c.439G>A	XP_016877469.1:p.Asp147Asn
XM_017021981.1:c.1759G>A	XP_016877470.1:p.Asp587Asn
XM_017021982.1:c.148G>A	XP_016877471.1:p.Asp50Asn
XM_017021983.1:c.27-15088G>A	XP_016877472.1:n.27-15088G>A
XM_017021984.1:c.898G>A	XP_016877473.1:p.Asp300Asn
XR_001751118.1:n.2781G>A
XR_001751119.1:n.2781G>A
XR_001751120.1:n.2781G>A
NM_139057.4:c.1627G>A MANE Select	NP_620688.2:p.Asp543Asn