Canonical Allele Identifier: CA393933701

Gene: ADAMTS17

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_139057.4:c.1618G>C MANE Select	NP_620688.2:p.Glu540Gln
ENST00000268070.9:c.1618G>C MANE Select	ENSP00000268070.4:p.Glu540Gln
NM_139057.2:c.1618G>C	NP_620688.2:p.Glu540Gln
NM_139057.3:c.1618G>C	NP_620688.2:p.Glu540Gln
ENST00000268070.8:c.1618G>C	ENSP00000268070.4:p.Glu540Gln
ENST00000378898.8:n.1299G>C
ENST00000568565.2:c.1618G>C	ENSP00000456161.2:p.Glu540Gln
XM_005254872.2:c.1618G>C	XP_005254929.1:p.Glu540Gln
XM_005254872.3:c.1618G>C	XP_005254929.1:p.Glu540Gln
XM_011521312.1:c.1618G>C	XP_011519614.1:p.Glu540Gln
XM_011521312.2:c.1618G>C	XP_011519614.1:p.Glu540Gln
XM_017021973.2:c.1750G>C	XP_016877462.1:p.Glu584Gln
XM_017021974.1:c.1750G>C	XP_016877463.1:p.Glu584Gln
XM_017021975.1:c.1750G>C	XP_016877464.1:p.Glu584Gln
XM_017021976.1:c.1021G>C	XP_016877465.1:p.Glu341Gln
XM_017021977.1:c.1750G>C	XP_016877466.1:p.Glu584Gln
XM_017021978.1:c.652G>C	XP_016877467.1:p.Glu218Gln
XM_017021979.1:c.430G>C	XP_016877468.1:p.Glu144Gln
XM_017021980.1:c.430G>C	XP_016877469.1:p.Glu144Gln
XM_017021981.1:c.1750G>C	XP_016877470.1:p.Glu584Gln
XM_017021982.1:c.139G>C	XP_016877471.1:p.Glu47Gln
XM_017021983.1:c.27-15097G>C	XP_016877472.1:n.27-15097G>C
XM_017021984.1:c.889G>C	XP_016877473.1:p.Glu297Gln
XR_001751118.1:n.2772G>C
XR_001751119.1:n.2772G>C
XR_001751120.1:n.2772G>C