Canonical Allele Identifier: CA393943953
Gene: ADAMTS17 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.100281329C>G , CM000677.2:g.100281329C>G GRCh38
NC_000015.9:g.100821534C>G , CM000677.1:g.100821534C>G GRCh37
NC_000015.8:g.98639057C>G NCBI36
NG_016287.1:g.65650G>C
NG_016287.2:g.65650G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000268070.9:c.689G>C MANE Select ENSP00000268070.4:p.Ser230Thr
ENST00000568565.2:c.689G>C ENSP00000456161.2:p.Ser230Thr
ENST00000268070.8:c.689G>C ENSP00000268070.4:p.Ser230Thr
ENST00000378898.8:n.370G>C
ENST00000558960.1:c.*111G>C ENSP00000453604.1:n.*111G>C
NM_139057.2:c.689G>C NP_620688.2:p.Ser230Thr
XM_005254872.2:c.689G>C XP_005254929.1:p.Ser230Thr
XM_011521312.1:c.689G>C XP_011519614.1:p.Ser230Thr
NM_139057.3:c.689G>C NP_620688.2:p.Ser230Thr
XM_005254872.3:c.689G>C XP_005254929.1:p.Ser230Thr
XM_011521312.2:c.689G>C XP_011519614.1:p.Ser230Thr
XM_017021973.2:c.689G>C XP_016877462.1:p.Ser230Thr
XM_017021974.1:c.689G>C XP_016877463.1:p.Ser230Thr
XM_017021975.1:c.689G>C XP_016877464.1:p.Ser230Thr
XM_017021976.1:c.-41G>C XP_016877465.1:n.-41G>C
XM_017021977.1:c.689G>C XP_016877466.1:p.Ser230Thr
XM_017021981.1:c.689G>C XP_016877470.1:p.Ser230Thr
XM_017021984.1:c.-41G>C XP_016877473.1:n.-41G>C
XR_001751118.1:n.1711G>C
XR_001751119.1:n.1711G>C
XR_001751120.1:n.1711G>C
NM_139057.4:c.689G>C MANE Select NP_620688.2:p.Ser230Thr