Canonical Allele Identifier: CA393933682

Gene: ADAMTS17

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_139057.4:c.1627G>C MANE Select	NP_620688.2:p.Asp543His
ENST00000268070.9:c.1627G>C MANE Select	ENSP00000268070.4:p.Asp543His
NM_139057.2:c.1627G>C	NP_620688.2:p.Asp543His
NM_139057.3:c.1627G>C	NP_620688.2:p.Asp543His
ENST00000268070.8:c.1627G>C	ENSP00000268070.4:p.Asp543His
ENST00000378898.8:n.1308G>C
ENST00000568565.2:c.1627G>C	ENSP00000456161.2:p.Asp543His
XM_005254872.2:c.1627G>C	XP_005254929.1:p.Asp543His
XM_005254872.3:c.1627G>C	XP_005254929.1:p.Asp543His
XM_011521312.1:c.1627G>C	XP_011519614.1:p.Asp543His
XM_011521312.2:c.1627G>C	XP_011519614.1:p.Asp543His
XM_017021973.2:c.1759G>C	XP_016877462.1:p.Asp587His
XM_017021974.1:c.1759G>C	XP_016877463.1:p.Asp587His
XM_017021975.1:c.1759G>C	XP_016877464.1:p.Asp587His
XM_017021976.1:c.1030G>C	XP_016877465.1:p.Asp344His
XM_017021977.1:c.1759G>C	XP_016877466.1:p.Asp587His
XM_017021978.1:c.661G>C	XP_016877467.1:p.Asp221His
XM_017021979.1:c.439G>C	XP_016877468.1:p.Asp147His
XM_017021980.1:c.439G>C	XP_016877469.1:p.Asp147His
XM_017021981.1:c.1759G>C	XP_016877470.1:p.Asp587His
XM_017021982.1:c.148G>C	XP_016877471.1:p.Asp50His
XM_017021983.1:c.27-15088G>C	XP_016877472.1:n.27-15088G>C
XM_017021984.1:c.898G>C	XP_016877473.1:p.Asp300His
XR_001751118.1:n.2781G>C
XR_001751119.1:n.2781G>C
XR_001751120.1:n.2781G>C