Canonical Allele Identifier: CA7758113

Gene: ADAMTS17

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100132007G>A , CM000677.2:g.100132007G>A	GRCh38
NC_000015.9:g.100672212G>A , CM000677.1:g.100672212G>A	GRCh37
NC_000015.8:g.98489735G>A	NCBI36
NG_016287.1:g.214972C>T
NG_016287.2:g.214972C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268070.9:c.1721C>T MANE Select	ENSP00000268070.4:p.Pro574Leu
ENST00000568565.2:c.1721C>T	ENSP00000456161.2:p.Pro574Leu
ENST00000268070.8:c.1721C>T	ENSP00000268070.4:p.Pro574Leu
ENST00000378898.8:n.1402C>T
NM_139057.2:c.1721C>T	NP_620688.2:p.Pro574Leu
XM_005254872.2:c.1721C>T	XP_005254929.1:p.Pro574Leu
XM_011521312.1:c.1721C>T	XP_011519614.1:p.Pro574Leu
NM_139057.3:c.1721C>T	NP_620688.2:p.Pro574Leu
XM_005254872.3:c.1721C>T	XP_005254929.1:p.Pro574Leu
XM_011521312.2:c.1721C>T	XP_011519614.1:p.Pro574Leu
XM_017021973.2:c.1853C>T	XP_016877462.1:p.Pro618Leu
XM_017021974.1:c.1853C>T	XP_016877463.1:p.Pro618Leu
XM_017021975.1:c.1853C>T	XP_016877464.1:p.Pro618Leu
XM_017021976.1:c.1124C>T	XP_016877465.1:p.Pro375Leu
XM_017021977.1:c.1853C>T	XP_016877466.1:p.Pro618Leu
XM_017021978.1:c.755C>T	XP_016877467.1:p.Pro252Leu
XM_017021979.1:c.533C>T	XP_016877468.1:p.Pro178Leu
XM_017021980.1:c.533C>T	XP_016877469.1:p.Pro178Leu
XM_017021981.1:c.1853C>T	XP_016877470.1:p.Pro618Leu
XM_017021982.1:c.242C>T	XP_016877471.1:p.Pro81Leu
XM_017021983.1:c.27-14994C>T	XP_016877472.1:n.27-14994C>T
XM_017021984.1:c.992C>T	XP_016877473.1:p.Pro331Leu
XR_001751118.1:n.2875C>T
XR_001751119.1:n.2875C>T
XR_001751120.1:n.2875C>T
NM_139057.4:c.1721C>T MANE Select	NP_620688.2:p.Pro574Leu