Canonical Allele Identifier: CA393943905

Gene: ADAMTS17

Linked Data

• dbSNP Id: rs2142079523
• gnomAD v4: 15-100281306-C-A
• MyVariant Identifiers: chr15:g.100821511C>A (hg19) ; chr15:g.100281306C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100281306C>A , CM000677.2:g.100281306C>A	GRCh38
NC_000015.9:g.100821511C>A , CM000677.1:g.100821511C>A	GRCh37
NC_000015.8:g.98639034C>A	NCBI36
NG_016287.1:g.65673G>T
NG_016287.2:g.65673G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268070.9:c.712G>T MANE Select	ENSP00000268070.4:p.Val238Leu
ENST00000568565.2:c.712G>T	ENSP00000456161.2:p.Val238Leu
ENST00000268070.8:c.712G>T	ENSP00000268070.4:p.Val238Leu
ENST00000378898.8:n.393G>T
ENST00000558960.1:c.*134G>T	ENSP00000453604.1:n.*134G>T
NM_139057.2:c.712G>T	NP_620688.2:p.Val238Leu
XM_005254872.2:c.712G>T	XP_005254929.1:p.Val238Leu
XM_011521312.1:c.712G>T	XP_011519614.1:p.Val238Leu
NM_139057.3:c.712G>T	NP_620688.2:p.Val238Leu
XM_005254872.3:c.712G>T	XP_005254929.1:p.Val238Leu
XM_011521312.2:c.712G>T	XP_011519614.1:p.Val238Leu
XM_017021973.2:c.712G>T	XP_016877462.1:p.Val238Leu
XM_017021974.1:c.712G>T	XP_016877463.1:p.Val238Leu
XM_017021975.1:c.712G>T	XP_016877464.1:p.Val238Leu
XM_017021976.1:c.-18G>T	XP_016877465.1:n.-18G>T
XM_017021977.1:c.712G>T	XP_016877466.1:p.Val238Leu
XM_017021981.1:c.712G>T	XP_016877470.1:p.Val238Leu
XM_017021984.1:c.-18G>T	XP_016877473.1:n.-18G>T
XR_001751118.1:n.1734G>T
XR_001751119.1:n.1734G>T
XR_001751120.1:n.1734G>T
NM_139057.4:c.712G>T MANE Select	NP_620688.2:p.Val238Leu