Canonical Allele Identifier: CA393933684

Gene: ADAMTS17

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100132103A>G , CM000677.2:g.100132103A>G	GRCh38
NC_000015.9:g.100672308A>G , CM000677.1:g.100672308A>G	GRCh37
NC_000015.8:g.98489831A>G	NCBI36
NG_016287.1:g.214876T>C
NG_016287.2:g.214876T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268070.9:c.1625T>C MANE Select	ENSP00000268070.4:p.Val542Ala
ENST00000568565.2:c.1625T>C	ENSP00000456161.2:p.Val542Ala
ENST00000268070.8:c.1625T>C	ENSP00000268070.4:p.Val542Ala
ENST00000378898.8:n.1306T>C
NM_139057.2:c.1625T>C	NP_620688.2:p.Val542Ala
XM_005254872.2:c.1625T>C	XP_005254929.1:p.Val542Ala
XM_011521312.1:c.1625T>C	XP_011519614.1:p.Val542Ala
NM_139057.3:c.1625T>C	NP_620688.2:p.Val542Ala
XM_005254872.3:c.1625T>C	XP_005254929.1:p.Val542Ala
XM_011521312.2:c.1625T>C	XP_011519614.1:p.Val542Ala
XM_017021973.2:c.1757T>C	XP_016877462.1:p.Val586Ala
XM_017021974.1:c.1757T>C	XP_016877463.1:p.Val586Ala
XM_017021975.1:c.1757T>C	XP_016877464.1:p.Val586Ala
XM_017021976.1:c.1028T>C	XP_016877465.1:p.Val343Ala
XM_017021977.1:c.1757T>C	XP_016877466.1:p.Val586Ala
XM_017021978.1:c.659T>C	XP_016877467.1:p.Val220Ala
XM_017021979.1:c.437T>C	XP_016877468.1:p.Val146Ala
XM_017021980.1:c.437T>C	XP_016877469.1:p.Val146Ala
XM_017021981.1:c.1757T>C	XP_016877470.1:p.Val586Ala
XM_017021982.1:c.146T>C	XP_016877471.1:p.Val49Ala
XM_017021983.1:c.27-15090T>C	XP_016877472.1:n.27-15090T>C
XM_017021984.1:c.896T>C	XP_016877473.1:p.Val299Ala
XR_001751118.1:n.2779T>C
XR_001751119.1:n.2779T>C
XR_001751120.1:n.2779T>C
NM_139057.4:c.1625T>C MANE Select	NP_620688.2:p.Val542Ala