Canonical Allele Identifier: CA14126678
Gene: ADAMTS17 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.100246066A>G , CM000677.2:g.100246066A>G GRCh38
NC_000015.9:g.100786271A>G , CM000677.1:g.100786271A>G GRCh37
NC_000015.8:g.98603794A>G NCBI36
NG_016287.1:g.100913T>C
NG_016287.2:g.100913T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000268070.9:c.1075+8070T>C MANE Select ENSP00000268070.4:n.1075+8070T>C
ENST00000568565.2:c.1075+8070T>C ENSP00000456161.2:n.1075+8070T>C
ENST00000268070.8:c.1075+8070T>C ENSP00000268070.4:n.1075+8070T>C
ENST00000378898.8:n.756+8070T>C
ENST00000559976.1:n.71+8070T>C
NM_139057.2:c.1075+8070T>C NP_620688.2:n.1075+8070T>C
XM_005254872.2:c.1075+8070T>C XP_005254929.1:n.1075+8070T>C
XM_011521312.1:c.1075+8070T>C XP_011519614.1:n.1075+8070T>C
NM_139057.3:c.1075+8070T>C NP_620688.2:n.1075+8070T>C
XM_005254872.3:c.1075+8070T>C XP_005254929.1:n.1075+8070T>C
XM_011521312.2:c.1075+8070T>C XP_011519614.1:n.1075+8070T>C
XM_017021973.2:c.1075+8070T>C XP_016877462.1:n.1075+8070T>C
XM_017021974.1:c.1075+8070T>C XP_016877463.1:n.1075+8070T>C
XM_017021975.1:c.1075+8070T>C XP_016877464.1:n.1075+8070T>C
XM_017021976.1:c.346+8070T>C XP_016877465.1:n.346+8070T>C
XM_017021977.1:c.1075+8070T>C XP_016877466.1:n.1075+8070T>C
XM_017021979.1:c.-8+8070T>C XP_016877468.1:n.-8+8070T>C
XM_017021981.1:c.1075+8070T>C XP_016877470.1:n.1075+8070T>C
XM_017021984.1:c.346+8070T>C XP_016877473.1:n.346+8070T>C
XR_001751118.1:n.2097+8070T>C
XR_001751119.1:n.2097+8070T>C
XR_001751120.1:n.2097+8070T>C
NM_139057.4:c.1075+8070T>C MANE Select NP_620688.2:n.1075+8070T>C