Canonical Allele Identifier: CA7758121
Community Standard Title: NM_139057.4(ADAMTS17):c.1696A>C (p.Arg566=)
Gene: ADAMTS17 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.100132032T>G , CM000677.2:g.100132032T>G GRCh38
NC_000015.9:g.100672237T>G , CM000677.1:g.100672237T>G GRCh37
NC_000015.8:g.98489760T>G NCBI36
NG_016287.1:g.214947A>C
NG_016287.2:g.214947A>C

Transcript Alleles

HGVS Amino-acid Change
NM_139057.4:c.1696A>C MANE Select NP_620688.2:p.Arg566=
ENST00000268070.9:c.1696A>C MANE Select ENSP00000268070.4:p.Arg566=
NM_139057.2:c.1696A>C NP_620688.2:p.Arg566=
NM_139057.3:c.1696A>C NP_620688.2:p.Arg566=
ENST00000268070.8:c.1696A>C ENSP00000268070.4:p.Arg566=
ENST00000378898.8:n.1377A>C
ENST00000568565.2:c.1696A>C ENSP00000456161.2:p.Arg566=
XM_005254872.2:c.1696A>C XP_005254929.1:p.Arg566=
XM_005254872.3:c.1696A>C XP_005254929.1:p.Arg566=
XM_011521312.1:c.1696A>C XP_011519614.1:p.Arg566=
XM_011521312.2:c.1696A>C XP_011519614.1:p.Arg566=
XM_017021973.2:c.1828A>C XP_016877462.1:p.Arg610=
XM_017021974.1:c.1828A>C XP_016877463.1:p.Arg610=
XM_017021975.1:c.1828A>C XP_016877464.1:p.Arg610=
XM_017021976.1:c.1099A>C XP_016877465.1:p.Arg367=
XM_017021977.1:c.1828A>C XP_016877466.1:p.Arg610=
XM_017021978.1:c.730A>C XP_016877467.1:p.Arg244=
XM_017021979.1:c.508A>C XP_016877468.1:p.Arg170=
XM_017021980.1:c.508A>C XP_016877469.1:p.Arg170=
XM_017021981.1:c.1828A>C XP_016877470.1:p.Arg610=
XM_017021982.1:c.217A>C XP_016877471.1:p.Arg73=
XM_017021983.1:c.27-15019A>C XP_016877472.1:n.27-15019A>C
XM_017021984.1:c.967A>C XP_016877473.1:p.Arg323=
XR_001751118.1:n.2850A>C
XR_001751119.1:n.2850A>C
XR_001751120.1:n.2850A>C