Canonical Allele Identifier: CA393943945
Gene: ADAMTS17 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.100281326T>A , CM000677.2:g.100281326T>A GRCh38
NC_000015.9:g.100821531T>A , CM000677.1:g.100821531T>A GRCh37
NC_000015.8:g.98639054T>A NCBI36
NG_016287.1:g.65653A>T
NG_016287.2:g.65653A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000268070.9:c.692A>T MANE Select ENSP00000268070.4:p.Glu231Val
ENST00000568565.2:c.692A>T ENSP00000456161.2:p.Glu231Val
ENST00000268070.8:c.692A>T ENSP00000268070.4:p.Glu231Val
ENST00000378898.8:n.373A>T
ENST00000558960.1:c.*114A>T ENSP00000453604.1:n.*114A>T
NM_139057.2:c.692A>T NP_620688.2:p.Glu231Val
XM_005254872.2:c.692A>T XP_005254929.1:p.Glu231Val
XM_011521312.1:c.692A>T XP_011519614.1:p.Glu231Val
NM_139057.3:c.692A>T NP_620688.2:p.Glu231Val
XM_005254872.3:c.692A>T XP_005254929.1:p.Glu231Val
XM_011521312.2:c.692A>T XP_011519614.1:p.Glu231Val
XM_017021973.2:c.692A>T XP_016877462.1:p.Glu231Val
XM_017021974.1:c.692A>T XP_016877463.1:p.Glu231Val
XM_017021975.1:c.692A>T XP_016877464.1:p.Glu231Val
XM_017021976.1:c.-38A>T XP_016877465.1:n.-38A>T
XM_017021977.1:c.692A>T XP_016877466.1:p.Glu231Val
XM_017021981.1:c.692A>T XP_016877470.1:p.Glu231Val
XM_017021984.1:c.-38A>T XP_016877473.1:n.-38A>T
XR_001751118.1:n.1714A>T
XR_001751119.1:n.1714A>T
XR_001751120.1:n.1714A>T
NM_139057.4:c.692A>T MANE Select NP_620688.2:p.Glu231Val