Canonical Allele Identifier: CA393943873

Gene: ADAMTS17

Linked Data

• gnomAD v4: 15-100281289-G-T
• COSMIC: COSM6274520
• MyVariant Identifiers: chr15:g.100821494G>T (hg19) ; chr15:g.100281289G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100281289G>T , CM000677.2:g.100281289G>T	GRCh38
NC_000015.9:g.100821494G>T , CM000677.1:g.100821494G>T	GRCh37
NC_000015.8:g.98639017G>T	NCBI36
NG_016287.1:g.65690C>A
NG_016287.2:g.65690C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268070.9:c.729C>A MANE Select	ENSP00000268070.4:p.Asp243Glu
ENST00000568565.2:c.729C>A	ENSP00000456161.2:p.Asp243Glu
ENST00000268070.8:c.729C>A	ENSP00000268070.4:p.Asp243Glu
ENST00000378898.8:n.410C>A
ENST00000558960.1:c.*151C>A	ENSP00000453604.1:n.*151C>A
NM_139057.2:c.729C>A	NP_620688.2:p.Asp243Glu
XM_005254872.2:c.729C>A	XP_005254929.1:p.Asp243Glu
XM_011521312.1:c.729C>A	XP_011519614.1:p.Asp243Glu
NM_139057.3:c.729C>A	NP_620688.2:p.Asp243Glu
XM_005254872.3:c.729C>A	XP_005254929.1:p.Asp243Glu
XM_011521312.2:c.729C>A	XP_011519614.1:p.Asp243Glu
XM_017021973.2:c.729C>A	XP_016877462.1:p.Asp243Glu
XM_017021974.1:c.729C>A	XP_016877463.1:p.Asp243Glu
XM_017021975.1:c.729C>A	XP_016877464.1:p.Asp243Glu
XM_017021976.1:c.-1C>A	XP_016877465.1:n.-1C>A
XM_017021977.1:c.729C>A	XP_016877466.1:p.Asp243Glu
XM_017021981.1:c.729C>A	XP_016877470.1:p.Asp243Glu
XM_017021984.1:c.-1C>A	XP_016877473.1:n.-1C>A
XR_001751118.1:n.1751C>A
XR_001751119.1:n.1751C>A
XR_001751120.1:n.1751C>A
NM_139057.4:c.729C>A MANE Select	NP_620688.2:p.Asp243Glu