Canonical Allele Identifier: CA393933691
Gene: ADAMTS17 HGNC NCBI
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.100132106T>G , CM000677.2:g.100132106T>G GRCh38
NC_000015.9:g.100672311T>G , CM000677.1:g.100672311T>G GRCh37
NC_000015.8:g.98489834T>G NCBI36
NG_016287.1:g.214873A>C
NG_016287.2:g.214873A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000268070.9:c.1622A>C MANE Select ENSP00000268070.4:p.His541Pro
ENST00000568565.2:c.1622A>C ENSP00000456161.2:p.His541Pro
ENST00000268070.8:c.1622A>C ENSP00000268070.4:p.His541Pro
ENST00000378898.8:n.1303A>C
NM_139057.2:c.1622A>C NP_620688.2:p.His541Pro
XM_005254872.2:c.1622A>C XP_005254929.1:p.His541Pro
XM_011521312.1:c.1622A>C XP_011519614.1:p.His541Pro
NM_139057.3:c.1622A>C NP_620688.2:p.His541Pro
XM_005254872.3:c.1622A>C XP_005254929.1:p.His541Pro
XM_011521312.2:c.1622A>C XP_011519614.1:p.His541Pro
XM_017021973.2:c.1754A>C XP_016877462.1:p.His585Pro
XM_017021974.1:c.1754A>C XP_016877463.1:p.His585Pro
XM_017021975.1:c.1754A>C XP_016877464.1:p.His585Pro
XM_017021976.1:c.1025A>C XP_016877465.1:p.His342Pro
XM_017021977.1:c.1754A>C XP_016877466.1:p.His585Pro
XM_017021978.1:c.656A>C XP_016877467.1:p.His219Pro
XM_017021979.1:c.434A>C XP_016877468.1:p.His145Pro
XM_017021980.1:c.434A>C XP_016877469.1:p.His145Pro
XM_017021981.1:c.1754A>C XP_016877470.1:p.His585Pro
XM_017021982.1:c.143A>C XP_016877471.1:p.His48Pro
XM_017021983.1:c.27-15093A>C XP_016877472.1:n.27-15093A>C
XM_017021984.1:c.893A>C XP_016877473.1:p.His298Pro
XR_001751118.1:n.2776A>C
XR_001751119.1:n.2776A>C
XR_001751120.1:n.2776A>C
NM_139057.4:c.1622A>C MANE Select NP_620688.2:p.His541Pro