Canonical Allele Identifier: CA357430801

Gene: ADAMTS3

Linked Data

• gnomAD v4: 4-72313729-G-C
• MyVariant Identifiers: chr4:g.73179446G>C (hg19) ; chr4:g.72313729G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313729G>C , CM000666.2:g.72313729G>C	GRCh38
NC_000004.11:g.73179446G>C , CM000666.1:g.73179446G>C	GRCh37
NC_000004.10:g.73398310G>C	NCBI36
NG_046955.1:g.260071C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1693C>G MANE Select	ENSP00000286657.4:p.Arg565Gly
ENST00000286657.8:c.1693C>G	ENSP00000286657.4:p.Arg565Gly
ENST00000622135.1:c.1693C>G	ENSP00000480055.1:p.Arg565Gly
NM_014243.2:c.1693C>G	NP_055058.2:p.Arg565Gly
XM_011532421.1:c.1636C>G	XP_011530723.1:p.Arg546Gly
XM_011532422.1:c.1609C>G	XP_011530724.1:p.Arg537Gly
XM_011532423.1:c.1051C>G	XP_011530725.1:p.Arg351Gly
XM_011532424.1:c.961C>G	XP_011530726.1:p.Arg321Gly
XM_011532421.2:c.1636C>G	XP_011530723.1:p.Arg546Gly
XM_011532422.3:c.1609C>G	XP_011530724.1:p.Arg537Gly
NM_014243.3:c.1693C>G MANE Select	NP_055058.2:p.Arg565Gly