Canonical Allele Identifier: CA393933679

Gene: ADAMTS17

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100132100T>G , CM000677.2:g.100132100T>G	GRCh38
NC_000015.9:g.100672305T>G , CM000677.1:g.100672305T>G	GRCh37
NC_000015.8:g.98489828T>G	NCBI36
NG_016287.1:g.214879A>C
NG_016287.2:g.214879A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268070.9:c.1628A>C MANE Select	ENSP00000268070.4:p.Asp543Ala
ENST00000568565.2:c.1628A>C	ENSP00000456161.2:p.Asp543Ala
ENST00000268070.8:c.1628A>C	ENSP00000268070.4:p.Asp543Ala
ENST00000378898.8:n.1309A>C
NM_139057.2:c.1628A>C	NP_620688.2:p.Asp543Ala
XM_005254872.2:c.1628A>C	XP_005254929.1:p.Asp543Ala
XM_011521312.1:c.1628A>C	XP_011519614.1:p.Asp543Ala
NM_139057.3:c.1628A>C	NP_620688.2:p.Asp543Ala
XM_005254872.3:c.1628A>C	XP_005254929.1:p.Asp543Ala
XM_011521312.2:c.1628A>C	XP_011519614.1:p.Asp543Ala
XM_017021973.2:c.1760A>C	XP_016877462.1:p.Asp587Ala
XM_017021974.1:c.1760A>C	XP_016877463.1:p.Asp587Ala
XM_017021975.1:c.1760A>C	XP_016877464.1:p.Asp587Ala
XM_017021976.1:c.1031A>C	XP_016877465.1:p.Asp344Ala
XM_017021977.1:c.1760A>C	XP_016877466.1:p.Asp587Ala
XM_017021978.1:c.662A>C	XP_016877467.1:p.Asp221Ala
XM_017021979.1:c.440A>C	XP_016877468.1:p.Asp147Ala
XM_017021980.1:c.440A>C	XP_016877469.1:p.Asp147Ala
XM_017021981.1:c.1760A>C	XP_016877470.1:p.Asp587Ala
XM_017021982.1:c.149A>C	XP_016877471.1:p.Asp50Ala
XM_017021983.1:c.27-15087A>C	XP_016877472.1:n.27-15087A>C
XM_017021984.1:c.899A>C	XP_016877473.1:p.Asp300Ala
XR_001751118.1:n.2782A>C
XR_001751119.1:n.2782A>C
XR_001751120.1:n.2782A>C
NM_139057.4:c.1628A>C MANE Select	NP_620688.2:p.Asp543Ala