Canonical Allele Identifier: CA2956882

Gene: ADAMTS3

Linked Data

• dbSNP Id: rs758569986
• ExAC: 4:73179466 G / A
• gnomAD v2: 4-73179466-G-A
• gnomAD v3: 4-72313749-G-A
• gnomAD v4: 4-72313749-G-A
• COSMIC: COSM5643585
• MyVariant Identifiers: chr4:g.73179466G>A (hg19) ; chr4:g.72313749G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313749G>A , CM000666.2:g.72313749G>A	GRCh38
NC_000004.11:g.73179466G>A , CM000666.1:g.73179466G>A	GRCh37
NC_000004.10:g.73398330G>A	NCBI36
NG_046955.1:g.260051C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1673C>T MANE Select	ENSP00000286657.4:p.Thr558Ile
ENST00000286657.8:c.1673C>T	ENSP00000286657.4:p.Thr558Ile
ENST00000622135.1:c.1673C>T	ENSP00000480055.1:p.Thr558Ile
NM_014243.2:c.1673C>T	NP_055058.2:p.Thr558Ile
XM_011532421.1:c.1616C>T	XP_011530723.1:p.Thr539Ile
XM_011532422.1:c.1589C>T	XP_011530724.1:p.Thr530Ile
XM_011532423.1:c.1031C>T	XP_011530725.1:p.Thr344Ile
XM_011532424.1:c.941C>T	XP_011530726.1:p.Thr314Ile
XM_011532421.2:c.1616C>T	XP_011530723.1:p.Thr539Ile
XM_011532422.3:c.1589C>T	XP_011530724.1:p.Thr530Ile
NM_014243.3:c.1673C>T MANE Select	NP_055058.2:p.Thr558Ile