Canonical Allele Identifier: CA2573150640

Gene: ADAMTS17

Linked Data

• ClinVar Variation Id: 1616564
• ClinVar RCV Id: RCV002084402
• dbSNP Id: rs2141999068
• gnomAD v4: 15-100341421-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100341421G>A , CM000677.2:g.100341421G>A	GRCh38
NC_000015.9:g.100881626G>A , CM000677.1:g.100881626G>A	GRCh37
NC_000015.8:g.98699149G>A	NCBI36
NG_016287.1:g.5558C>T
NG_016287.2:g.5558C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268070.9:c.80-12C>T MANE Select	ENSP00000268070.4:n.80-12C>T
ENST00000568565.2:c.80-12C>T	ENSP00000456161.2:n.80-12C>T
ENST00000268070.8:c.80-12C>T	ENSP00000268070.4:n.80-12C>T
ENST00000558960.1:c.79+400C>T	ENSP00000453604.1:n.79+400C>T
NM_139057.2:c.80-12C>T	NP_620688.2:n.80-12C>T
XM_005254872.2:c.80-12C>T	XP_005254929.1:n.80-12C>T
XM_011521312.1:c.80-12C>T	XP_011519614.1:n.80-12C>T
NM_139057.3:c.80-12C>T	NP_620688.2:n.80-12C>T
XM_005254872.3:c.80-12C>T	XP_005254929.1:n.80-12C>T
XM_011521312.2:c.80-12C>T	XP_011519614.1:n.80-12C>T
XM_017021973.2:c.80-12C>T	XP_016877462.1:n.80-12C>T
XM_017021974.1:c.80-12C>T	XP_016877463.1:n.80-12C>T
XM_017021975.1:c.80-12C>T	XP_016877464.1:n.80-12C>T
XM_017021976.1:c.-280+400C>T	XP_016877465.1:n.-280+400C>T
XM_017021977.1:c.80-12C>T	XP_016877466.1:n.80-12C>T
XM_017021981.1:c.80-12C>T	XP_016877470.1:n.80-12C>T
XR_001751118.1:n.1102-12C>T
XR_001751119.1:n.1102-12C>T
XR_001751120.1:n.1102-12C>T
NM_139057.4:c.80-12C>T MANE Select	NP_620688.2:n.80-12C>T