Canonical Allele Identifier: CA275520826

Gene: ADAMTS17

Linked Data

• dbSNP Id: rs944316243
• gnomAD v4: 15-100281239-A-G
• MyVariant Identifiers: chr15:g.100821444A>G (hg19) ; chr15:g.100281239A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100281239A>G , CM000677.2:g.100281239A>G	GRCh38
NC_000015.9:g.100821444A>G , CM000677.1:g.100821444A>G	GRCh37
NC_000015.8:g.98638967A>G	NCBI36
NG_016287.1:g.65740T>C
NG_016287.2:g.65740T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268070.9:c.779T>C MANE Select	ENSP00000268070.4:p.Val260Ala
ENST00000568565.2:c.779T>C	ENSP00000456161.2:p.Val260Ala
ENST00000268070.8:c.779T>C	ENSP00000268070.4:p.Val260Ala
ENST00000378898.8:n.460T>C
ENST00000558960.1:c.*201T>C	ENSP00000453604.1:n.*201T>C
NM_139057.2:c.779T>C	NP_620688.2:p.Val260Ala
XM_005254872.2:c.779T>C	XP_005254929.1:p.Val260Ala
XM_011521312.1:c.779T>C	XP_011519614.1:p.Val260Ala
NM_139057.3:c.779T>C	NP_620688.2:p.Val260Ala
XM_005254872.3:c.779T>C	XP_005254929.1:p.Val260Ala
XM_011521312.2:c.779T>C	XP_011519614.1:p.Val260Ala
XM_017021973.2:c.779T>C	XP_016877462.1:p.Val260Ala
XM_017021974.1:c.779T>C	XP_016877463.1:p.Val260Ala
XM_017021975.1:c.779T>C	XP_016877464.1:p.Val260Ala
XM_017021976.1:c.50T>C	XP_016877465.1:p.Val17Ala
XM_017021977.1:c.779T>C	XP_016877466.1:p.Val260Ala
XM_017021981.1:c.779T>C	XP_016877470.1:p.Val260Ala
XM_017021984.1:c.50T>C	XP_016877473.1:p.Val17Ala
XR_001751118.1:n.1801T>C
XR_001751119.1:n.1801T>C
XR_001751120.1:n.1801T>C
NM_139057.4:c.779T>C MANE Select	NP_620688.2:p.Val260Ala