Canonical Allele Identifier: CA357430767

Gene: ADAMTS3

Linked Data

• MyVariant Identifiers: chr4:g.73179427A>T (hg19) ; chr4:g.72313710A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313710A>T , CM000666.2:g.72313710A>T	GRCh38
NC_000004.11:g.73179427A>T , CM000666.1:g.73179427A>T	GRCh37
NC_000004.10:g.73398291A>T	NCBI36
NG_046955.1:g.260090T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1712T>A MANE Select	ENSP00000286657.4:p.Val571Asp
ENST00000286657.8:c.1712T>A	ENSP00000286657.4:p.Val571Asp
ENST00000622135.1:c.1712T>A	ENSP00000480055.1:p.Val571Asp
NM_014243.2:c.1712T>A	NP_055058.2:p.Val571Asp
XM_011532421.1:c.1655T>A	XP_011530723.1:p.Val552Asp
XM_011532422.1:c.1628T>A	XP_011530724.1:p.Val543Asp
XM_011532423.1:c.1070T>A	XP_011530725.1:p.Val357Asp
XM_011532424.1:c.980T>A	XP_011530726.1:p.Val327Asp
XM_011532421.2:c.1655T>A	XP_011530723.1:p.Val552Asp
XM_011532422.3:c.1628T>A	XP_011530724.1:p.Val543Asp
NM_014243.3:c.1712T>A MANE Select	NP_055058.2:p.Val571Asp