Canonical Allele Identifier: CA492385365

Gene: ADAMTS17

Linked Data

• dbSNP Id: rs1350283304
• gnomAD v2: 15-100821485-C-T
• gnomAD v4: 15-100281280-C-T
• MyVariant Identifiers: chr15:g.100821485C>T (hg19) ; chr15:g.100281280C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100281280C>T , CM000677.2:g.100281280C>T	GRCh38
NC_000015.9:g.100821485C>T , CM000677.1:g.100821485C>T	GRCh37
NC_000015.8:g.98639008C>T	NCBI36
NG_016287.1:g.65699G>A
NG_016287.2:g.65699G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268070.9:c.738G>A MANE Select	ENSP00000268070.4:p.Gln246=
ENST00000568565.2:c.738G>A	ENSP00000456161.2:p.Gln246=
ENST00000268070.8:c.738G>A	ENSP00000268070.4:p.Gln246=
ENST00000378898.8:n.419G>A
ENST00000558960.1:c.*160G>A	ENSP00000453604.1:n.*160G>A
NM_139057.2:c.738G>A	NP_620688.2:p.Gln246=
XM_005254872.2:c.738G>A	XP_005254929.1:p.Gln246=
XM_011521312.1:c.738G>A	XP_011519614.1:p.Gln246=
NM_139057.3:c.738G>A	NP_620688.2:p.Gln246=
XM_005254872.3:c.738G>A	XP_005254929.1:p.Gln246=
XM_011521312.2:c.738G>A	XP_011519614.1:p.Gln246=
XM_017021973.2:c.738G>A	XP_016877462.1:p.Gln246=
XM_017021974.1:c.738G>A	XP_016877463.1:p.Gln246=
XM_017021975.1:c.738G>A	XP_016877464.1:p.Gln246=
XM_017021976.1:c.9G>A	XP_016877465.1:p.Gln3=
XM_017021977.1:c.738G>A	XP_016877466.1:p.Gln246=
XM_017021981.1:c.738G>A	XP_016877470.1:p.Gln246=
XM_017021984.1:c.9G>A	XP_016877473.1:p.Gln3=
XR_001751118.1:n.1760G>A
XR_001751119.1:n.1760G>A
XR_001751120.1:n.1760G>A
NM_139057.4:c.738G>A MANE Select	NP_620688.2:p.Gln246=