Canonical Allele Identifier: CA357430939

Gene: ADAMTS3

Linked Data

• dbSNP Id: rs1219161684
• gnomAD v2: 4-73179506-C-T
• gnomAD v4: 4-72313789-C-T
• MyVariant Identifiers: chr4:g.73179506C>T (hg19) ; chr4:g.72313789C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313789C>T , CM000666.2:g.72313789C>T	GRCh38
NC_000004.11:g.73179506C>T , CM000666.1:g.73179506C>T	GRCh37
NC_000004.10:g.73398370C>T	NCBI36
NG_046955.1:g.260011G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1633G>A MANE Select	ENSP00000286657.4:p.Ala545Thr
ENST00000286657.8:c.1633G>A	ENSP00000286657.4:p.Ala545Thr
ENST00000622135.1:c.1633G>A	ENSP00000480055.1:p.Ala545Thr
NM_014243.2:c.1633G>A	NP_055058.2:p.Ala545Thr
XM_011532421.1:c.1576G>A	XP_011530723.1:p.Ala526Thr
XM_011532422.1:c.1549G>A	XP_011530724.1:p.Ala517Thr
XM_011532423.1:c.991G>A	XP_011530725.1:p.Ala331Thr
XM_011532424.1:c.901G>A	XP_011530726.1:p.Ala301Thr
XM_011532421.2:c.1576G>A	XP_011530723.1:p.Ala526Thr
XM_011532422.3:c.1549G>A	XP_011530724.1:p.Ala517Thr
NM_014243.3:c.1633G>A MANE Select	NP_055058.2:p.Ala545Thr