Canonical Allele Identifier: CA99549860

Gene: ADAMTS3

Linked Data

• dbSNP Id: rs964826618
• MyVariant Identifiers: chr4:g.73179515A>G (hg19) ; chr4:g.72313798A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313798A>G , CM000666.2:g.72313798A>G	GRCh38
NC_000004.11:g.73179515A>G , CM000666.1:g.73179515A>G	GRCh37
NC_000004.10:g.73398379A>G	NCBI36
NG_046955.1:g.260002T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1624T>C MANE Select	ENSP00000286657.4:p.Trp542Arg
ENST00000286657.8:c.1624T>C	ENSP00000286657.4:p.Trp542Arg
ENST00000622135.1:c.1624T>C	ENSP00000480055.1:p.Trp542Arg
NM_014243.2:c.1624T>C	NP_055058.2:p.Trp542Arg
XM_011532421.1:c.1567T>C	XP_011530723.1:p.Trp523Arg
XM_011532422.1:c.1540T>C	XP_011530724.1:p.Trp514Arg
XM_011532423.1:c.982T>C	XP_011530725.1:p.Trp328Arg
XM_011532424.1:c.892T>C	XP_011530726.1:p.Trp298Arg
XM_011532421.2:c.1567T>C	XP_011530723.1:p.Trp523Arg
XM_011532422.3:c.1540T>C	XP_011530724.1:p.Trp514Arg
NM_014243.3:c.1624T>C MANE Select	NP_055058.2:p.Trp542Arg