Canonical Allele Identifier: CA492384728
Community Standard Title: NM_139057.4(ADAMTS17):c.1719C>T (p.Pro573=)
Gene: ADAMTS17 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.100132009G>A , CM000677.2:g.100132009G>A GRCh38
NC_000015.9:g.100672214G>A , CM000677.1:g.100672214G>A GRCh37
NC_000015.8:g.98489737G>A NCBI36
NG_016287.1:g.214970C>T
NG_016287.2:g.214970C>T

Transcript Alleles

HGVS Amino-acid Change
NM_139057.4:c.1719C>T MANE Select NP_620688.2:p.Pro573=
ENST00000268070.9:c.1719C>T MANE Select ENSP00000268070.4:p.Pro573=
NM_139057.2:c.1719C>T NP_620688.2:p.Pro573=
NM_139057.3:c.1719C>T NP_620688.2:p.Pro573=
ENST00000268070.8:c.1719C>T ENSP00000268070.4:p.Pro573=
ENST00000378898.8:n.1400C>T
ENST00000568565.2:c.1719C>T ENSP00000456161.2:p.Pro573=
XM_005254872.2:c.1719C>T XP_005254929.1:p.Pro573=
XM_005254872.3:c.1719C>T XP_005254929.1:p.Pro573=
XM_011521312.1:c.1719C>T XP_011519614.1:p.Pro573=
XM_011521312.2:c.1719C>T XP_011519614.1:p.Pro573=
XM_017021973.2:c.1851C>T XP_016877462.1:p.Pro617=
XM_017021974.1:c.1851C>T XP_016877463.1:p.Pro617=
XM_017021975.1:c.1851C>T XP_016877464.1:p.Pro617=
XM_017021976.1:c.1122C>T XP_016877465.1:p.Pro374=
XM_017021977.1:c.1851C>T XP_016877466.1:p.Pro617=
XM_017021978.1:c.753C>T XP_016877467.1:p.Pro251=
XM_017021979.1:c.531C>T XP_016877468.1:p.Pro177=
XM_017021980.1:c.531C>T XP_016877469.1:p.Pro177=
XM_017021981.1:c.1851C>T XP_016877470.1:p.Pro617=
XM_017021982.1:c.240C>T XP_016877471.1:p.Pro80=
XM_017021983.1:c.27-14996C>T XP_016877472.1:n.27-14996C>T
XM_017021984.1:c.990C>T XP_016877473.1:p.Pro330=
XR_001751118.1:n.2873C>T
XR_001751119.1:n.2873C>T
XR_001751120.1:n.2873C>T