Canonical Allele Identifier: CA439879097

Gene: ADAMTS3

Linked Data

• dbSNP Id: rs1719308276
• gnomAD v3: 4-72313703-G-A
• gnomAD v4: 4-72313703-G-A
• MyVariant Identifiers: chr4:g.73179420G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313703G>A , CM000666.2:g.72313703G>A	GRCh38
NC_000004.11:g.73179420G>A , CM000666.1:g.73179420G>A	GRCh37
NC_000004.10:g.73398284G>A	NCBI36
NG_046955.1:g.260097C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1719C>T MANE Select	ENSP00000286657.4:p.Phe573=
ENST00000286657.8:c.1719C>T	ENSP00000286657.4:p.Phe573=
ENST00000622135.1:c.1719C>T	ENSP00000480055.1:p.Phe573=
NM_014243.2:c.1719C>T	NP_055058.2:p.Phe573=
XM_011532421.1:c.1662C>T	XP_011530723.1:p.Phe554=
XM_011532422.1:c.1635C>T	XP_011530724.1:p.Phe545=
XM_011532423.1:c.1077C>T	XP_011530725.1:p.Phe359=
XM_011532424.1:c.987C>T	XP_011530726.1:p.Phe329=
XM_011532421.2:c.1662C>T	XP_011530723.1:p.Phe554=
XM_011532422.3:c.1635C>T	XP_011530724.1:p.Phe545=
NM_014243.3:c.1719C>T MANE Select	NP_055058.2:p.Phe573=