Canonical Allele Identifier: CA393943881

Gene: ADAMTS17

Linked Data

• gnomAD v4: 15-100281293-G-T
• MyVariant Identifiers: chr15:g.100821498G>T (hg19) ; chr15:g.100281293G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100281293G>T , CM000677.2:g.100281293G>T	GRCh38
NC_000015.9:g.100821498G>T , CM000677.1:g.100821498G>T	GRCh37
NC_000015.8:g.98639021G>T	NCBI36
NG_016287.1:g.65686C>A
NG_016287.2:g.65686C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268070.9:c.725C>A MANE Select	ENSP00000268070.4:p.Ala242Asp
ENST00000568565.2:c.725C>A	ENSP00000456161.2:p.Ala242Asp
ENST00000268070.8:c.725C>A	ENSP00000268070.4:p.Ala242Asp
ENST00000378898.8:n.406C>A
ENST00000558960.1:c.*147C>A	ENSP00000453604.1:n.*147C>A
NM_139057.2:c.725C>A	NP_620688.2:p.Ala242Asp
XM_005254872.2:c.725C>A	XP_005254929.1:p.Ala242Asp
XM_011521312.1:c.725C>A	XP_011519614.1:p.Ala242Asp
NM_139057.3:c.725C>A	NP_620688.2:p.Ala242Asp
XM_005254872.3:c.725C>A	XP_005254929.1:p.Ala242Asp
XM_011521312.2:c.725C>A	XP_011519614.1:p.Ala242Asp
XM_017021973.2:c.725C>A	XP_016877462.1:p.Ala242Asp
XM_017021974.1:c.725C>A	XP_016877463.1:p.Ala242Asp
XM_017021975.1:c.725C>A	XP_016877464.1:p.Ala242Asp
XM_017021976.1:c.-5C>A	XP_016877465.1:n.-5C>A
XM_017021977.1:c.725C>A	XP_016877466.1:p.Ala242Asp
XM_017021981.1:c.725C>A	XP_016877470.1:p.Ala242Asp
XM_017021984.1:c.-5C>A	XP_016877473.1:n.-5C>A
XR_001751118.1:n.1747C>A
XR_001751119.1:n.1747C>A
XR_001751120.1:n.1747C>A
NM_139057.4:c.725C>A MANE Select	NP_620688.2:p.Ala242Asp