Canonical Allele Identifier: CA357430849

Gene: ADAMTS3

Linked Data

• MyVariant Identifiers: chr4:g.73179468C>A (hg19) ; chr4:g.72313751C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313751C>A , CM000666.2:g.72313751C>A	GRCh38
NC_000004.11:g.73179468C>A , CM000666.1:g.73179468C>A	GRCh37
NC_000004.10:g.73398332C>A	NCBI36
NG_046955.1:g.260049G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1671G>T MANE Select	ENSP00000286657.4:p.Trp557Cys
ENST00000286657.8:c.1671G>T	ENSP00000286657.4:p.Trp557Cys
ENST00000622135.1:c.1671G>T	ENSP00000480055.1:p.Trp557Cys
NM_014243.2:c.1671G>T	NP_055058.2:p.Trp557Cys
XM_011532421.1:c.1614G>T	XP_011530723.1:p.Trp538Cys
XM_011532422.1:c.1587G>T	XP_011530724.1:p.Trp529Cys
XM_011532423.1:c.1029G>T	XP_011530725.1:p.Trp343Cys
XM_011532424.1:c.939G>T	XP_011530726.1:p.Trp313Cys
XM_011532421.2:c.1614G>T	XP_011530723.1:p.Trp538Cys
XM_011532422.3:c.1587G>T	XP_011530724.1:p.Trp529Cys
NM_014243.3:c.1671G>T MANE Select	NP_055058.2:p.Trp557Cys