Canonical Allele Identifier: CA393943982
Gene: ADAMTS17 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.100281345C>G , CM000677.2:g.100281345C>G GRCh38
NC_000015.9:g.100821550C>G , CM000677.1:g.100821550C>G GRCh37
NC_000015.8:g.98639073C>G NCBI36
NG_016287.1:g.65634G>C
NG_016287.2:g.65634G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000268070.9:c.673G>C MANE Select ENSP00000268070.4:p.Ala225Pro
ENST00000568565.2:c.673G>C ENSP00000456161.2:p.Ala225Pro
ENST00000268070.8:c.673G>C ENSP00000268070.4:p.Ala225Pro
ENST00000378898.8:n.354G>C
ENST00000558960.1:c.*95G>C ENSP00000453604.1:n.*95G>C
NM_139057.2:c.673G>C NP_620688.2:p.Ala225Pro
XM_005254872.2:c.673G>C XP_005254929.1:p.Ala225Pro
XM_011521312.1:c.673G>C XP_011519614.1:p.Ala225Pro
NM_139057.3:c.673G>C NP_620688.2:p.Ala225Pro
XM_005254872.3:c.673G>C XP_005254929.1:p.Ala225Pro
XM_011521312.2:c.673G>C XP_011519614.1:p.Ala225Pro
XM_017021973.2:c.673G>C XP_016877462.1:p.Ala225Pro
XM_017021974.1:c.673G>C XP_016877463.1:p.Ala225Pro
XM_017021975.1:c.673G>C XP_016877464.1:p.Ala225Pro
XM_017021976.1:c.-57G>C XP_016877465.1:n.-57G>C
XM_017021977.1:c.673G>C XP_016877466.1:p.Ala225Pro
XM_017021981.1:c.673G>C XP_016877470.1:p.Ala225Pro
XM_017021984.1:c.-57G>C XP_016877473.1:n.-57G>C
XR_001751118.1:n.1695G>C
XR_001751119.1:n.1695G>C
XR_001751120.1:n.1695G>C
NM_139057.4:c.673G>C MANE Select NP_620688.2:p.Ala225Pro