Canonical Allele Identifier: CA2630596379

Gene: ADAMTS17

Linked Data

• gnomAD v4: 15-99973117-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.99973117G>A , CM000677.2:g.99973117G>A	GRCh38
NC_000015.9:g.100513322G>A , CM000677.1:g.100513322G>A	GRCh37
NC_000015.8:g.98330845G>A	NCBI36
NG_016287.1:g.373862C>T
NG_016287.2:g.373862C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268070.9:c.*1285C>T MANE Select	ENSP00000268070.4:n.*1285C>T
ENST00000268070.8:c.*1285C>T	ENSP00000268070.4:n.*1285C>T
ENST00000557896.1:n.1584C>T
NM_139057.2:c.*1285C>T	NP_620688.2:n.*1285C>T
XM_005254872.2:c.*1285C>T	XP_005254929.1:n.*1285C>T
XM_011521312.1:c.*1285C>T	XP_011519614.1:n.*1285C>T
XR_429624.2:n.1743+384G>A
NM_139057.3:c.*1285C>T	NP_620688.2:n.*1285C>T
XM_005254872.3:c.*1285C>T	XP_005254929.1:n.*1285C>T
XM_011521312.2:c.*1285C>T	XP_011519614.1:n.*1285C>T
XM_017021973.2:c.*1285C>T	XP_016877462.1:n.*1285C>T
XM_017021975.1:c.*1285C>T	XP_016877464.1:n.*1285C>T
XM_017021976.1:c.*1285C>T	XP_016877465.1:n.*1285C>T
XM_017021978.1:c.*1285C>T	XP_016877467.1:n.*1285C>T
XM_017021979.1:c.*1285C>T	XP_016877468.1:n.*1285C>T
XM_017021980.1:c.*1285C>T	XP_016877469.1:n.*1285C>T
XM_017021982.1:c.*1285C>T	XP_016877471.1:n.*1285C>T
XM_017021983.1:c.*1285C>T	XP_016877472.1:n.*1285C>T
NM_139057.4:c.*1285C>T MANE Select	NP_620688.2:n.*1285C>T