Canonical Allele Identifier: CA439879111

Gene: ADAMTS3

Linked Data

• gnomAD v4: 4-72313715-A-C
• MyVariant Identifiers: chr4:g.73179432A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313715A>C , CM000666.2:g.72313715A>C	GRCh38
NC_000004.11:g.73179432A>C , CM000666.1:g.73179432A>C	GRCh37
NC_000004.10:g.73398296A>C	NCBI36
NG_046955.1:g.260085T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1707T>G MANE Select	ENSP00000286657.4:p.Thr569=
ENST00000286657.8:c.1707T>G	ENSP00000286657.4:p.Thr569=
ENST00000622135.1:c.1707T>G	ENSP00000480055.1:p.Thr569=
NM_014243.2:c.1707T>G	NP_055058.2:p.Thr569=
XM_011532421.1:c.1650T>G	XP_011530723.1:p.Thr550=
XM_011532422.1:c.1623T>G	XP_011530724.1:p.Thr541=
XM_011532423.1:c.1065T>G	XP_011530725.1:p.Thr355=
XM_011532424.1:c.975T>G	XP_011530726.1:p.Thr325=
XM_011532421.2:c.1650T>G	XP_011530723.1:p.Thr550=
XM_011532422.3:c.1623T>G	XP_011530724.1:p.Thr541=
NM_014243.3:c.1707T>G MANE Select	NP_055058.2:p.Thr569=