Canonical Allele Identifier: CA357431001

Gene: ADAMTS3

Linked Data

• dbSNP Id: rs1290722845
• gnomAD v2: 4-73179531-A-T
• MyVariant Identifiers: chr4:g.73179531A>T (hg19) ; chr4:g.72313814A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313814A>T , CM000666.2:g.72313814A>T	GRCh38
NC_000004.11:g.73179531A>T , CM000666.1:g.73179531A>T	GRCh37
NC_000004.10:g.73398395A>T	NCBI36
NG_046955.1:g.259986T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1608T>A MANE Select	ENSP00000286657.4:p.Tyr536Ter
ENST00000286657.8:c.1608T>A	ENSP00000286657.4:p.Tyr536Ter
ENST00000622135.1:c.1608T>A	ENSP00000480055.1:p.Tyr536Ter
NM_014243.2:c.1608T>A	NP_055058.2:p.Tyr536Ter
XM_011532421.1:c.1551T>A	XP_011530723.1:p.Tyr517Ter
XM_011532422.1:c.1524T>A	XP_011530724.1:p.Tyr508Ter
XM_011532423.1:c.966T>A	XP_011530725.1:p.Tyr322Ter
XM_011532424.1:c.876T>A	XP_011530726.1:p.Tyr292Ter
XM_011532421.2:c.1551T>A	XP_011530723.1:p.Tyr517Ter
XM_011532422.3:c.1524T>A	XP_011530724.1:p.Tyr508Ter
NM_014243.3:c.1608T>A MANE Select	NP_055058.2:p.Tyr536Ter