Canonical Allele Identifier: CA357430845

Gene: ADAMTS3

Linked Data

• MyVariant Identifiers: chr4:g.73179466G>T (hg19) ; chr4:g.72313749G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1673C>A MANE Select	ENSP00000286657.4:p.Thr558Asn
ENST00000286657.8:c.1673C>A	ENSP00000286657.4:p.Thr558Asn
ENST00000622135.1:c.1673C>A	ENSP00000480055.1:p.Thr558Asn
NM_014243.2:c.1673C>A	NP_055058.2:p.Thr558Asn
XM_011532421.1:c.1616C>A	XP_011530723.1:p.Thr539Asn
XM_011532422.1:c.1589C>A	XP_011530724.1:p.Thr530Asn
XM_011532423.1:c.1031C>A	XP_011530725.1:p.Thr344Asn
XM_011532424.1:c.941C>A	XP_011530726.1:p.Thr314Asn
XM_011532421.2:c.1616C>A	XP_011530723.1:p.Thr539Asn
XM_011532422.3:c.1589C>A	XP_011530724.1:p.Thr530Asn
NM_014243.3:c.1673C>A MANE Select	NP_055058.2:p.Thr558Asn