Canonical Allele Identifier: CA393692283

Gene: ADAMTS17

Linked Data

• gnomAD v4: 15-100048873-G-T
• MyVariant Identifiers: chr15:g.100589078G>T (hg19) ; chr15:g.100048873G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100048873G>T , CM000677.2:g.100048873G>T	GRCh38
NC_000015.9:g.100589078G>T , CM000677.1:g.100589078G>T	GRCh37
NC_000015.8:g.98406601G>T	NCBI36
NG_016287.1:g.298106C>A
NG_016287.2:g.298106C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268070.9:c.2575C>A MANE Select	ENSP00000268070.4:p.His859Asn
ENST00000568565.2:c.2656C>A	ENSP00000456161.2:p.His886Asn
ENST00000268070.8:c.2575C>A	ENSP00000268070.4:p.His859Asn
NM_139057.2:c.2575C>A	NP_620688.2:p.His859Asn
XM_005254872.2:c.2656C>A	XP_005254929.1:p.His886Asn
XM_011521312.1:c.2725C>A	XP_011519614.1:p.His909Asn
NM_139057.3:c.2575C>A	NP_620688.2:p.His859Asn
XM_005254872.3:c.2656C>A	XP_005254929.1:p.His886Asn
XM_011521312.2:c.2725C>A	XP_011519614.1:p.His909Asn
XM_017021973.2:c.2857C>A	XP_016877462.1:p.His953Asn
XM_017021974.1:c.2857C>A	XP_016877463.1:p.His953Asn
XM_017021975.1:c.2788C>A	XP_016877464.1:p.His930Asn
XM_017021976.1:c.2128C>A	XP_016877465.1:p.His710Asn
XM_017021978.1:c.1759C>A	XP_016877467.1:p.His587Asn
XM_017021979.1:c.1537C>A	XP_016877468.1:p.His513Asn
XM_017021980.1:c.1537C>A	XP_016877469.1:p.His513Asn
XM_017021982.1:c.1246C>A	XP_016877471.1:p.His416Asn
XM_017021983.1:c.1030C>A	XP_016877472.1:p.His344Asn
NM_139057.4:c.2575C>A MANE Select	NP_620688.2:p.His859Asn