Canonical Allele Identifier: CA7757706

Gene: ADAMTS17

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100048986C>T , CM000677.2:g.100048986C>T	GRCh38
NC_000015.9:g.100589191C>T , CM000677.1:g.100589191C>T	GRCh37
NC_000015.8:g.98406714C>T	NCBI36
NG_016287.1:g.297993G>A
NG_016287.2:g.297993G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268070.9:c.2462G>A MANE Select	ENSP00000268070.4:p.Arg821His
ENST00000568565.2:c.2543G>A	ENSP00000456161.2:p.Arg848His
ENST00000268070.8:c.2462G>A	ENSP00000268070.4:p.Arg821His
NM_139057.2:c.2462G>A	NP_620688.2:p.Arg821His
XM_005254872.2:c.2543G>A	XP_005254929.1:p.Arg848His
XM_011521312.1:c.2612G>A	XP_011519614.1:p.Arg871His
NM_139057.3:c.2462G>A	NP_620688.2:p.Arg821His
XM_005254872.3:c.2543G>A	XP_005254929.1:p.Arg848His
XM_011521312.2:c.2612G>A	XP_011519614.1:p.Arg871His
XM_017021973.2:c.2744G>A	XP_016877462.1:p.Arg915His
XM_017021974.1:c.2744G>A	XP_016877463.1:p.Arg915His
XM_017021975.1:c.2675G>A	XP_016877464.1:p.Arg892His
XM_017021976.1:c.2015G>A	XP_016877465.1:p.Arg672His
XM_017021978.1:c.1646G>A	XP_016877467.1:p.Arg549His
XM_017021979.1:c.1424G>A	XP_016877468.1:p.Arg475His
XM_017021980.1:c.1424G>A	XP_016877469.1:p.Arg475His
XM_017021982.1:c.1133G>A	XP_016877471.1:p.Arg378His
XM_017021983.1:c.917G>A	XP_016877472.1:p.Arg306His
NM_139057.4:c.2462G>A MANE Select	NP_620688.2:p.Arg821His