Canonical Allele Identifier: CA393943958
Gene: ADAMTS17 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.100281332G>C , CM000677.2:g.100281332G>C GRCh38
NC_000015.9:g.100821537G>C , CM000677.1:g.100821537G>C GRCh37
NC_000015.8:g.98639060G>C NCBI36
NG_016287.1:g.65647C>G
NG_016287.2:g.65647C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268070.9:c.686C>G MANE Select ENSP00000268070.4:p.Thr229Ser
ENST00000568565.2:c.686C>G ENSP00000456161.2:p.Thr229Ser
ENST00000268070.8:c.686C>G ENSP00000268070.4:p.Thr229Ser
ENST00000378898.8:n.367C>G
ENST00000558960.1:c.*108C>G ENSP00000453604.1:n.*108C>G
NM_139057.2:c.686C>G NP_620688.2:p.Thr229Ser
XM_005254872.2:c.686C>G XP_005254929.1:p.Thr229Ser
XM_011521312.1:c.686C>G XP_011519614.1:p.Thr229Ser
NM_139057.3:c.686C>G NP_620688.2:p.Thr229Ser
XM_005254872.3:c.686C>G XP_005254929.1:p.Thr229Ser
XM_011521312.2:c.686C>G XP_011519614.1:p.Thr229Ser
XM_017021973.2:c.686C>G XP_016877462.1:p.Thr229Ser
XM_017021974.1:c.686C>G XP_016877463.1:p.Thr229Ser
XM_017021975.1:c.686C>G XP_016877464.1:p.Thr229Ser
XM_017021976.1:c.-44C>G XP_016877465.1:n.-44C>G
XM_017021977.1:c.686C>G XP_016877466.1:p.Thr229Ser
XM_017021981.1:c.686C>G XP_016877470.1:p.Thr229Ser
XM_017021984.1:c.-44C>G XP_016877473.1:n.-44C>G
XR_001751118.1:n.1708C>G
XR_001751119.1:n.1708C>G
XR_001751120.1:n.1708C>G
NM_139057.4:c.686C>G MANE Select NP_620688.2:p.Thr229Ser