Canonical Allele Identifier: CA798160796

Gene: ADAMTS3

Linked Data

• dbSNP Id: rs1473748146
• gnomAD v4: 4-72313934-G-A
• MyVariant Identifiers: chr4:g.73179651G>A (hg19) ; chr4:g.72313934G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313934G>A , CM000666.2:g.72313934G>A	GRCh38
NC_000004.11:g.73179651G>A , CM000666.1:g.73179651G>A	GRCh37
NC_000004.10:g.73398515G>A	NCBI36
NG_046955.1:g.259866C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1600-112C>T MANE Select	ENSP00000286657.4:n.1600-112C>T
ENST00000286657.8:c.1600-112C>T	ENSP00000286657.4:n.1600-112C>T
ENST00000622135.1:c.1600-112C>T	ENSP00000480055.1:n.1600-112C>T
NM_014243.2:c.1600-112C>T	NP_055058.2:n.1600-112C>T
XM_011532421.1:c.1543-112C>T	XP_011530723.1:n.1543-112C>T
XM_011532422.1:c.1516-112C>T	XP_011530724.1:n.1516-112C>T
XM_011532423.1:c.958-112C>T	XP_011530725.1:n.958-112C>T
XM_011532424.1:c.868-112C>T	XP_011530726.1:n.868-112C>T
XM_011532421.2:c.1543-112C>T	XP_011530723.1:n.1543-112C>T
XM_011532422.3:c.1516-112C>T	XP_011530724.1:n.1516-112C>T
NM_014243.3:c.1600-112C>T MANE Select	NP_055058.2:n.1600-112C>T