Canonical Allele Identifier: CA393933685

Gene: ADAMTS17

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100132103A>T , CM000677.2:g.100132103A>T	GRCh38
NC_000015.9:g.100672308A>T , CM000677.1:g.100672308A>T	GRCh37
NC_000015.8:g.98489831A>T	NCBI36
NG_016287.1:g.214876T>A
NG_016287.2:g.214876T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268070.9:c.1625T>A MANE Select	ENSP00000268070.4:p.Val542Glu
ENST00000568565.2:c.1625T>A	ENSP00000456161.2:p.Val542Glu
ENST00000268070.8:c.1625T>A	ENSP00000268070.4:p.Val542Glu
ENST00000378898.8:n.1306T>A
NM_139057.2:c.1625T>A	NP_620688.2:p.Val542Glu
XM_005254872.2:c.1625T>A	XP_005254929.1:p.Val542Glu
XM_011521312.1:c.1625T>A	XP_011519614.1:p.Val542Glu
NM_139057.3:c.1625T>A	NP_620688.2:p.Val542Glu
XM_005254872.3:c.1625T>A	XP_005254929.1:p.Val542Glu
XM_011521312.2:c.1625T>A	XP_011519614.1:p.Val542Glu
XM_017021973.2:c.1757T>A	XP_016877462.1:p.Val586Glu
XM_017021974.1:c.1757T>A	XP_016877463.1:p.Val586Glu
XM_017021975.1:c.1757T>A	XP_016877464.1:p.Val586Glu
XM_017021976.1:c.1028T>A	XP_016877465.1:p.Val343Glu
XM_017021977.1:c.1757T>A	XP_016877466.1:p.Val586Glu
XM_017021978.1:c.659T>A	XP_016877467.1:p.Val220Glu
XM_017021979.1:c.437T>A	XP_016877468.1:p.Val146Glu
XM_017021980.1:c.437T>A	XP_016877469.1:p.Val146Glu
XM_017021981.1:c.1757T>A	XP_016877470.1:p.Val586Glu
XM_017021982.1:c.146T>A	XP_016877471.1:p.Val49Glu
XM_017021983.1:c.27-15090T>A	XP_016877472.1:n.27-15090T>A
XM_017021984.1:c.896T>A	XP_016877473.1:p.Val299Glu
XR_001751118.1:n.2779T>A
XR_001751119.1:n.2779T>A
XR_001751120.1:n.2779T>A
NM_139057.4:c.1625T>A MANE Select	NP_620688.2:p.Val542Glu