Canonical Allele Identifier: CA393933485
Gene: ADAMTS17 HGNC NCBI
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.100132010G>C , CM000677.2:g.100132010G>C GRCh38
NC_000015.9:g.100672215G>C , CM000677.1:g.100672215G>C GRCh37
NC_000015.8:g.98489738G>C NCBI36
NG_016287.1:g.214969C>G
NG_016287.2:g.214969C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268070.9:c.1718C>G MANE Select ENSP00000268070.4:p.Pro573Arg
ENST00000568565.2:c.1718C>G ENSP00000456161.2:p.Pro573Arg
ENST00000268070.8:c.1718C>G ENSP00000268070.4:p.Pro573Arg
ENST00000378898.8:n.1399C>G
NM_139057.2:c.1718C>G NP_620688.2:p.Pro573Arg
XM_005254872.2:c.1718C>G XP_005254929.1:p.Pro573Arg
XM_011521312.1:c.1718C>G XP_011519614.1:p.Pro573Arg
NM_139057.3:c.1718C>G NP_620688.2:p.Pro573Arg
XM_005254872.3:c.1718C>G XP_005254929.1:p.Pro573Arg
XM_011521312.2:c.1718C>G XP_011519614.1:p.Pro573Arg
XM_017021973.2:c.1850C>G XP_016877462.1:p.Pro617Arg
XM_017021974.1:c.1850C>G XP_016877463.1:p.Pro617Arg
XM_017021975.1:c.1850C>G XP_016877464.1:p.Pro617Arg
XM_017021976.1:c.1121C>G XP_016877465.1:p.Pro374Arg
XM_017021977.1:c.1850C>G XP_016877466.1:p.Pro617Arg
XM_017021978.1:c.752C>G XP_016877467.1:p.Pro251Arg
XM_017021979.1:c.530C>G XP_016877468.1:p.Pro177Arg
XM_017021980.1:c.530C>G XP_016877469.1:p.Pro177Arg
XM_017021981.1:c.1850C>G XP_016877470.1:p.Pro617Arg
XM_017021982.1:c.239C>G XP_016877471.1:p.Pro80Arg
XM_017021983.1:c.27-14997C>G XP_016877472.1:n.27-14997C>G
XM_017021984.1:c.989C>G XP_016877473.1:p.Pro330Arg
XR_001751118.1:n.2872C>G
XR_001751119.1:n.2872C>G
XR_001751120.1:n.2872C>G
NM_139057.4:c.1718C>G MANE Select NP_620688.2:p.Pro573Arg