Canonical Allele Identifier: CA393933699

Gene: ADAMTS17

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100132109T>G , CM000677.2:g.100132109T>G	GRCh38
NC_000015.9:g.100672314T>G , CM000677.1:g.100672314T>G	GRCh37
NC_000015.8:g.98489837T>G	NCBI36
NG_016287.1:g.214870A>C
NG_016287.2:g.214870A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268070.9:c.1619A>C MANE Select	ENSP00000268070.4:p.Glu540Ala
ENST00000568565.2:c.1619A>C	ENSP00000456161.2:p.Glu540Ala
ENST00000268070.8:c.1619A>C	ENSP00000268070.4:p.Glu540Ala
ENST00000378898.8:n.1300A>C
NM_139057.2:c.1619A>C	NP_620688.2:p.Glu540Ala
XM_005254872.2:c.1619A>C	XP_005254929.1:p.Glu540Ala
XM_011521312.1:c.1619A>C	XP_011519614.1:p.Glu540Ala
NM_139057.3:c.1619A>C	NP_620688.2:p.Glu540Ala
XM_005254872.3:c.1619A>C	XP_005254929.1:p.Glu540Ala
XM_011521312.2:c.1619A>C	XP_011519614.1:p.Glu540Ala
XM_017021973.2:c.1751A>C	XP_016877462.1:p.Glu584Ala
XM_017021974.1:c.1751A>C	XP_016877463.1:p.Glu584Ala
XM_017021975.1:c.1751A>C	XP_016877464.1:p.Glu584Ala
XM_017021976.1:c.1022A>C	XP_016877465.1:p.Glu341Ala
XM_017021977.1:c.1751A>C	XP_016877466.1:p.Glu584Ala
XM_017021978.1:c.653A>C	XP_016877467.1:p.Glu218Ala
XM_017021979.1:c.431A>C	XP_016877468.1:p.Glu144Ala
XM_017021980.1:c.431A>C	XP_016877469.1:p.Glu144Ala
XM_017021981.1:c.1751A>C	XP_016877470.1:p.Glu584Ala
XM_017021982.1:c.140A>C	XP_016877471.1:p.Glu47Ala
XM_017021983.1:c.27-15096A>C	XP_016877472.1:n.27-15096A>C
XM_017021984.1:c.890A>C	XP_016877473.1:p.Glu297Ala
XR_001751118.1:n.2773A>C
XR_001751119.1:n.2773A>C
XR_001751120.1:n.2773A>C
NM_139057.4:c.1619A>C MANE Select	NP_620688.2:p.Glu540Ala