Canonical Allele Identifier: CA275483567
Gene: ADAMTS17 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.99972717C>T , CM000677.2:g.99972717C>T GRCh38
NC_000015.9:g.100512922C>T , CM000677.1:g.100512922C>T GRCh37
NC_000015.8:g.98330445C>T NCBI36
NG_016287.1:g.374262G>A
NG_016287.2:g.374262G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000268070.9:c.*1685G>A MANE Select ENSP00000268070.4:n.*1685G>A
ENST00000268070.8:c.*1685G>A ENSP00000268070.4:n.*1685G>A
NM_139057.2:c.*1685G>A NP_620688.2:n.*1685G>A
XR_429624.2:n.1727C>T
XR_932724.1:n.439C>T
NM_139057.3:c.*1685G>A NP_620688.2:n.*1685G>A
XM_005254872.3:c.*1685G>A XP_005254929.1:n.*1685G>A
XM_011521312.2:c.*1685G>A XP_011519614.1:n.*1685G>A
XM_017021973.2:c.*1685G>A XP_016877462.1:n.*1685G>A
XM_017021975.1:c.*1685G>A XP_016877464.1:n.*1685G>A
XM_017021976.1:c.*1685G>A XP_016877465.1:n.*1685G>A
XM_017021978.1:c.*1685G>A XP_016877467.1:n.*1685G>A
XM_017021979.1:c.*1685G>A XP_016877468.1:n.*1685G>A
XM_017021980.1:c.*1685G>A XP_016877469.1:n.*1685G>A
NM_139057.4:c.*1685G>A MANE Select NP_620688.2:n.*1685G>A