Canonical Allele Identifier: CA116037
Gene: ADAMTS17 HGNC NCBI

Linked Data

ClinVar Variation Id: 3154
ClinVar RCV Id: RCV000003304
dbSNP Id: rs267606638
MyVariant Identifiers: chr15:g.100821463G>A (hg19) chr15:g.100281258G>A (hg38)
PubMed: PMID:19836009
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.100281258G>A , CM000677.2:g.100281258G>A GRCh38
NC_000015.9:g.100821463G>A , CM000677.1:g.100821463G>A GRCh37
NC_000015.8:g.98638986G>A NCBI36
NG_016287.1:g.65721C>T
NG_016287.2:g.65721C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000268070.9:c.760C>T MANE Select ENSP00000268070.4:p.Gln254Ter
ENST00000568565.2:c.760C>T ENSP00000456161.2:p.Gln254Ter
ENST00000268070.8:c.760C>T ENSP00000268070.4:p.Gln254Ter
ENST00000378898.8:n.441C>T
ENST00000558960.1:c.*182C>T ENSP00000453604.1:n.*182C>T
NM_139057.2:c.760C>T NP_620688.2:p.Gln254Ter
XM_005254872.2:c.760C>T XP_005254929.1:p.Gln254Ter
XM_011521312.1:c.760C>T XP_011519614.1:p.Gln254Ter
NM_139057.3:c.760C>T NP_620688.2:p.Gln254Ter
XM_005254872.3:c.760C>T XP_005254929.1:p.Gln254Ter
XM_011521312.2:c.760C>T XP_011519614.1:p.Gln254Ter
XM_017021973.2:c.760C>T XP_016877462.1:p.Gln254Ter
XM_017021974.1:c.760C>T XP_016877463.1:p.Gln254Ter
XM_017021975.1:c.760C>T XP_016877464.1:p.Gln254Ter
XM_017021976.1:c.31C>T XP_016877465.1:p.Gln11Ter
XM_017021977.1:c.760C>T XP_016877466.1:p.Gln254Ter
XM_017021981.1:c.760C>T XP_016877470.1:p.Gln254Ter
XM_017021984.1:c.31C>T XP_016877473.1:p.Gln11Ter
XR_001751118.1:n.1782C>T
XR_001751119.1:n.1782C>T
XR_001751120.1:n.1782C>T
NM_139057.4:c.760C>T MANE Select NP_620688.2:p.Gln254Ter
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