Canonical Allele Identifier: CA393933673

Gene: ADAMTS17

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100132098C>A , CM000677.2:g.100132098C>A	GRCh38
NC_000015.9:g.100672303C>A , CM000677.1:g.100672303C>A	GRCh37
NC_000015.8:g.98489826C>A	NCBI36
NG_016287.1:g.214881G>T
NG_016287.2:g.214881G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268070.9:c.1630G>T MANE Select	ENSP00000268070.4:p.Gly544Ter
ENST00000568565.2:c.1630G>T	ENSP00000456161.2:p.Gly544Ter
ENST00000268070.8:c.1630G>T	ENSP00000268070.4:p.Gly544Ter
ENST00000378898.8:n.1311G>T
NM_139057.2:c.1630G>T	NP_620688.2:p.Gly544Ter
XM_005254872.2:c.1630G>T	XP_005254929.1:p.Gly544Ter
XM_011521312.1:c.1630G>T	XP_011519614.1:p.Gly544Ter
NM_139057.3:c.1630G>T	NP_620688.2:p.Gly544Ter
XM_005254872.3:c.1630G>T	XP_005254929.1:p.Gly544Ter
XM_011521312.2:c.1630G>T	XP_011519614.1:p.Gly544Ter
XM_017021973.2:c.1762G>T	XP_016877462.1:p.Gly588Ter
XM_017021974.1:c.1762G>T	XP_016877463.1:p.Gly588Ter
XM_017021975.1:c.1762G>T	XP_016877464.1:p.Gly588Ter
XM_017021976.1:c.1033G>T	XP_016877465.1:p.Gly345Ter
XM_017021977.1:c.1762G>T	XP_016877466.1:p.Gly588Ter
XM_017021978.1:c.664G>T	XP_016877467.1:p.Gly222Ter
XM_017021979.1:c.442G>T	XP_016877468.1:p.Gly148Ter
XM_017021980.1:c.442G>T	XP_016877469.1:p.Gly148Ter
XM_017021981.1:c.1762G>T	XP_016877470.1:p.Gly588Ter
XM_017021982.1:c.151G>T	XP_016877471.1:p.Gly51Ter
XM_017021983.1:c.27-15085G>T	XP_016877472.1:n.27-15085G>T
XM_017021984.1:c.901G>T	XP_016877473.1:p.Gly301Ter
XR_001751118.1:n.2784G>T
XR_001751119.1:n.2784G>T
XR_001751120.1:n.2784G>T
NM_139057.4:c.1630G>T MANE Select	NP_620688.2:p.Gly544Ter