Canonical Allele Identifier: CA393943787

Gene: ADAMTS17

Linked Data

• gnomAD v4: 15-100281249-T-A
• MyVariant Identifiers: chr15:g.100821454T>A (hg19) ; chr15:g.100281249T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100281249T>A , CM000677.2:g.100281249T>A	GRCh38
NC_000015.9:g.100821454T>A , CM000677.1:g.100821454T>A	GRCh37
NC_000015.8:g.98638977T>A	NCBI36
NG_016287.1:g.65730A>T
NG_016287.2:g.65730A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268070.9:c.769A>T MANE Select	ENSP00000268070.4:p.Ile257Phe
ENST00000568565.2:c.769A>T	ENSP00000456161.2:p.Ile257Phe
ENST00000268070.8:c.769A>T	ENSP00000268070.4:p.Ile257Phe
ENST00000378898.8:n.450A>T
ENST00000558960.1:c.*191A>T	ENSP00000453604.1:n.*191A>T
NM_139057.2:c.769A>T	NP_620688.2:p.Ile257Phe
XM_005254872.2:c.769A>T	XP_005254929.1:p.Ile257Phe
XM_011521312.1:c.769A>T	XP_011519614.1:p.Ile257Phe
NM_139057.3:c.769A>T	NP_620688.2:p.Ile257Phe
XM_005254872.3:c.769A>T	XP_005254929.1:p.Ile257Phe
XM_011521312.2:c.769A>T	XP_011519614.1:p.Ile257Phe
XM_017021973.2:c.769A>T	XP_016877462.1:p.Ile257Phe
XM_017021974.1:c.769A>T	XP_016877463.1:p.Ile257Phe
XM_017021975.1:c.769A>T	XP_016877464.1:p.Ile257Phe
XM_017021976.1:c.40A>T	XP_016877465.1:p.Ile14Phe
XM_017021977.1:c.769A>T	XP_016877466.1:p.Ile257Phe
XM_017021981.1:c.769A>T	XP_016877470.1:p.Ile257Phe
XM_017021984.1:c.40A>T	XP_016877473.1:p.Ile14Phe
XR_001751118.1:n.1791A>T
XR_001751119.1:n.1791A>T
XR_001751120.1:n.1791A>T
NM_139057.4:c.769A>T MANE Select	NP_620688.2:p.Ile257Phe