Canonical Allele Identifier: CA394525599

Gene: ADAMTS17

Linked Data

• dbSNP Id: rs2141998613
• gnomAD v4: 15-100341329-G-A
• MyVariant Identifiers: chr15:g.100881534G>A (hg19) ; chr15:g.100341329G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100341329G>A , CM000677.2:g.100341329G>A	GRCh38
NC_000015.9:g.100881534G>A , CM000677.1:g.100881534G>A	GRCh37
NC_000015.8:g.98699057G>A	NCBI36
NG_016287.1:g.5650C>T
NG_016287.2:g.5650C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268070.9:c.160C>T MANE Select	ENSP00000268070.4:p.Pro54Ser
ENST00000568565.2:c.160C>T	ENSP00000456161.2:p.Pro54Ser
ENST00000268070.8:c.160C>T	ENSP00000268070.4:p.Pro54Ser
ENST00000558960.1:c.79+492C>T	ENSP00000453604.1:n.79+492C>T
NM_139057.2:c.160C>T	NP_620688.2:p.Pro54Ser
XM_005254872.2:c.160C>T	XP_005254929.1:p.Pro54Ser
XM_011521312.1:c.160C>T	XP_011519614.1:p.Pro54Ser
NM_139057.3:c.160C>T	NP_620688.2:p.Pro54Ser
XM_005254872.3:c.160C>T	XP_005254929.1:p.Pro54Ser
XM_011521312.2:c.160C>T	XP_011519614.1:p.Pro54Ser
XM_017021973.2:c.160C>T	XP_016877462.1:p.Pro54Ser
XM_017021974.1:c.160C>T	XP_016877463.1:p.Pro54Ser
XM_017021975.1:c.160C>T	XP_016877464.1:p.Pro54Ser
XM_017021976.1:c.-280+492C>T	XP_016877465.1:n.-280+492C>T
XM_017021977.1:c.160C>T	XP_016877466.1:p.Pro54Ser
XM_017021981.1:c.160C>T	XP_016877470.1:p.Pro54Ser
XR_001751118.1:n.1182C>T
XR_001751119.1:n.1182C>T
XR_001751120.1:n.1182C>T
NM_139057.4:c.160C>T MANE Select	NP_620688.2:p.Pro54Ser