Canonical Allele Identifier: CA357430750

Gene: ADAMTS3

Linked Data

• COSMIC: COSM1057260
• MyVariant Identifiers: chr4:g.73179418C>T (hg19) ; chr4:g.72313701C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313701C>T , CM000666.2:g.72313701C>T	GRCh38
NC_000004.11:g.73179418C>T , CM000666.1:g.73179418C>T	GRCh37
NC_000004.10:g.73398282C>T	NCBI36
NG_046955.1:g.260099G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1721G>A MANE Select	ENSP00000286657.4:p.Arg574Lys
ENST00000286657.8:c.1721G>A	ENSP00000286657.4:p.Arg574Lys
ENST00000622135.1:c.1721G>A	ENSP00000480055.1:p.Arg574Lys
NM_014243.2:c.1721G>A	NP_055058.2:p.Arg574Lys
XM_011532421.1:c.1664G>A	XP_011530723.1:p.Arg555Lys
XM_011532422.1:c.1637G>A	XP_011530724.1:p.Arg546Lys
XM_011532423.1:c.1079G>A	XP_011530725.1:p.Arg360Lys
XM_011532424.1:c.989G>A	XP_011530726.1:p.Arg330Lys
XM_011532421.2:c.1664G>A	XP_011530723.1:p.Arg555Lys
XM_011532422.3:c.1637G>A	XP_011530724.1:p.Arg546Lys
NM_014243.3:c.1721G>A MANE Select	NP_055058.2:p.Arg574Lys