Canonical Allele Identifier: CA393692410

Gene: ADAMTS17

Linked Data

• gnomAD v4: 15-100048905-C-G
• MyVariant Identifiers: chr15:g.100589110C>G (hg19) ; chr15:g.100048905C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100048905C>G , CM000677.2:g.100048905C>G	GRCh38
NC_000015.9:g.100589110C>G , CM000677.1:g.100589110C>G	GRCh37
NC_000015.8:g.98406633C>G	NCBI36
NG_016287.1:g.298074G>C
NG_016287.2:g.298074G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268070.9:c.2543G>C MANE Select	ENSP00000268070.4:p.Arg848Pro
ENST00000568565.2:c.2624G>C	ENSP00000456161.2:p.Arg875Pro
ENST00000268070.8:c.2543G>C	ENSP00000268070.4:p.Arg848Pro
NM_139057.2:c.2543G>C	NP_620688.2:p.Arg848Pro
XM_005254872.2:c.2624G>C	XP_005254929.1:p.Arg875Pro
XM_011521312.1:c.2693G>C	XP_011519614.1:p.Arg898Pro
NM_139057.3:c.2543G>C	NP_620688.2:p.Arg848Pro
XM_005254872.3:c.2624G>C	XP_005254929.1:p.Arg875Pro
XM_011521312.2:c.2693G>C	XP_011519614.1:p.Arg898Pro
XM_017021973.2:c.2825G>C	XP_016877462.1:p.Arg942Pro
XM_017021974.1:c.2825G>C	XP_016877463.1:p.Arg942Pro
XM_017021975.1:c.2756G>C	XP_016877464.1:p.Arg919Pro
XM_017021976.1:c.2096G>C	XP_016877465.1:p.Arg699Pro
XM_017021978.1:c.1727G>C	XP_016877467.1:p.Arg576Pro
XM_017021979.1:c.1505G>C	XP_016877468.1:p.Arg502Pro
XM_017021980.1:c.1505G>C	XP_016877469.1:p.Arg502Pro
XM_017021982.1:c.1214G>C	XP_016877471.1:p.Arg405Pro
XM_017021983.1:c.998G>C	XP_016877472.1:p.Arg333Pro
NM_139057.4:c.2543G>C MANE Select	NP_620688.2:p.Arg848Pro