Canonical Allele Identifier: CA393943722
Gene: ADAMTS17 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.100281227A>C , CM000677.2:g.100281227A>C GRCh38
NC_000015.9:g.100821432A>C , CM000677.1:g.100821432A>C GRCh37
NC_000015.8:g.98638955A>C NCBI36
NG_016287.1:g.65752T>G
NG_016287.2:g.65752T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268070.9:c.789+2T>G MANE Select ENSP00000268070.4:n.789+2T>G
ENST00000568565.2:c.789+2T>G ENSP00000456161.2:n.789+2T>G
ENST00000268070.8:c.789+2T>G ENSP00000268070.4:n.789+2T>G
ENST00000378898.8:n.470+2T>G
ENST00000558960.1:c.*211+2T>G ENSP00000453604.1:n.*211+2T>G
NM_139057.2:c.789+2T>G NP_620688.2:n.789+2T>G
XM_005254872.2:c.789+2T>G XP_005254929.1:n.789+2T>G
XM_011521312.1:c.789+2T>G XP_011519614.1:n.789+2T>G
NM_139057.3:c.789+2T>G NP_620688.2:n.789+2T>G
XM_005254872.3:c.789+2T>G XP_005254929.1:n.789+2T>G
XM_011521312.2:c.789+2T>G XP_011519614.1:n.789+2T>G
XM_017021973.2:c.789+2T>G XP_016877462.1:n.789+2T>G
XM_017021974.1:c.789+2T>G XP_016877463.1:n.789+2T>G
XM_017021975.1:c.789+2T>G XP_016877464.1:n.789+2T>G
XM_017021976.1:c.60+2T>G XP_016877465.1:n.60+2T>G
XM_017021977.1:c.789+2T>G XP_016877466.1:n.789+2T>G
XM_017021981.1:c.789+2T>G XP_016877470.1:n.789+2T>G
XM_017021984.1:c.60+2T>G XP_016877473.1:n.60+2T>G
XR_001751118.1:n.1811+2T>G
XR_001751119.1:n.1811+2T>G
XR_001751120.1:n.1811+2T>G
NM_139057.4:c.789+2T>G MANE Select NP_620688.2:n.789+2T>G