Canonical Allele Identifier: CA393943962

Gene: ADAMTS17

Linked Data

• MyVariant Identifiers: chr15:g.100821540A>C (hg19) ; chr15:g.100281335A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100281335A>C , CM000677.2:g.100281335A>C	GRCh38
NC_000015.9:g.100821540A>C , CM000677.1:g.100821540A>C	GRCh37
NC_000015.8:g.98639063A>C	NCBI36
NG_016287.1:g.65644T>G
NG_016287.2:g.65644T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268070.9:c.683T>G MANE Select	ENSP00000268070.4:p.Leu228Arg
ENST00000568565.2:c.683T>G	ENSP00000456161.2:p.Leu228Arg
ENST00000268070.8:c.683T>G	ENSP00000268070.4:p.Leu228Arg
ENST00000378898.8:n.364T>G
ENST00000558960.1:c.*105T>G	ENSP00000453604.1:n.*105T>G
NM_139057.2:c.683T>G	NP_620688.2:p.Leu228Arg
XM_005254872.2:c.683T>G	XP_005254929.1:p.Leu228Arg
XM_011521312.1:c.683T>G	XP_011519614.1:p.Leu228Arg
NM_139057.3:c.683T>G	NP_620688.2:p.Leu228Arg
XM_005254872.3:c.683T>G	XP_005254929.1:p.Leu228Arg
XM_011521312.2:c.683T>G	XP_011519614.1:p.Leu228Arg
XM_017021973.2:c.683T>G	XP_016877462.1:p.Leu228Arg
XM_017021974.1:c.683T>G	XP_016877463.1:p.Leu228Arg
XM_017021975.1:c.683T>G	XP_016877464.1:p.Leu228Arg
XM_017021976.1:c.-47T>G	XP_016877465.1:n.-47T>G
XM_017021977.1:c.683T>G	XP_016877466.1:p.Leu228Arg
XM_017021981.1:c.683T>G	XP_016877470.1:p.Leu228Arg
XM_017021984.1:c.-47T>G	XP_016877473.1:n.-47T>G
XR_001751118.1:n.1705T>G
XR_001751119.1:n.1705T>G
XR_001751120.1:n.1705T>G
NM_139057.4:c.683T>G MANE Select	NP_620688.2:p.Leu228Arg