Canonical Allele Identifier: CA393933693

Gene: ADAMTS17

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100132107G>A , CM000677.2:g.100132107G>A	GRCh38
NC_000015.9:g.100672312G>A , CM000677.1:g.100672312G>A	GRCh37
NC_000015.8:g.98489835G>A	NCBI36
NG_016287.1:g.214872C>T
NG_016287.2:g.214872C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_139057.4:c.1621C>T MANE Select	NP_620688.2:p.His541Tyr
ENST00000268070.9:c.1621C>T MANE Select	ENSP00000268070.4:p.His541Tyr
NM_139057.2:c.1621C>T	NP_620688.2:p.His541Tyr
NM_139057.3:c.1621C>T	NP_620688.2:p.His541Tyr
ENST00000268070.8:c.1621C>T	ENSP00000268070.4:p.His541Tyr
ENST00000378898.8:n.1302C>T
ENST00000568565.2:c.1621C>T	ENSP00000456161.2:p.His541Tyr
XM_005254872.2:c.1621C>T	XP_005254929.1:p.His541Tyr
XM_005254872.3:c.1621C>T	XP_005254929.1:p.His541Tyr
XM_011521312.1:c.1621C>T	XP_011519614.1:p.His541Tyr
XM_011521312.2:c.1621C>T	XP_011519614.1:p.His541Tyr
XM_017021973.2:c.1753C>T	XP_016877462.1:p.His585Tyr
XM_017021974.1:c.1753C>T	XP_016877463.1:p.His585Tyr
XM_017021975.1:c.1753C>T	XP_016877464.1:p.His585Tyr
XM_017021976.1:c.1024C>T	XP_016877465.1:p.His342Tyr
XM_017021977.1:c.1753C>T	XP_016877466.1:p.His585Tyr
XM_017021978.1:c.655C>T	XP_016877467.1:p.His219Tyr
XM_017021979.1:c.433C>T	XP_016877468.1:p.His145Tyr
XM_017021980.1:c.433C>T	XP_016877469.1:p.His145Tyr
XM_017021981.1:c.1753C>T	XP_016877470.1:p.His585Tyr
XM_017021982.1:c.142C>T	XP_016877471.1:p.His48Tyr
XM_017021983.1:c.27-15094C>T	XP_016877472.1:n.27-15094C>T
XM_017021984.1:c.892C>T	XP_016877473.1:p.His298Tyr
XR_001751118.1:n.2775C>T
XR_001751119.1:n.2775C>T
XR_001751120.1:n.2775C>T