Canonical Allele Identifier: CA357430921

Gene: ADAMTS3

Linked Data

• MyVariant Identifiers: chr4:g.73179497G>C (hg19) ; chr4:g.72313780G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313780G>C , CM000666.2:g.72313780G>C	GRCh38
NC_000004.11:g.73179497G>C , CM000666.1:g.73179497G>C	GRCh37
NC_000004.10:g.73398361G>C	NCBI36
NG_046955.1:g.260020C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1642C>G MANE Select	ENSP00000286657.4:p.Gln548Glu
ENST00000286657.8:c.1642C>G	ENSP00000286657.4:p.Gln548Glu
ENST00000622135.1:c.1642C>G	ENSP00000480055.1:p.Gln548Glu
NM_014243.2:c.1642C>G	NP_055058.2:p.Gln548Glu
XM_011532421.1:c.1585C>G	XP_011530723.1:p.Gln529Glu
XM_011532422.1:c.1558C>G	XP_011530724.1:p.Gln520Glu
XM_011532423.1:c.1000C>G	XP_011530725.1:p.Gln334Glu
XM_011532424.1:c.910C>G	XP_011530726.1:p.Gln304Glu
XM_011532421.2:c.1585C>G	XP_011530723.1:p.Gln529Glu
XM_011532422.3:c.1558C>G	XP_011530724.1:p.Gln520Glu
NM_014243.3:c.1642C>G MANE Select	NP_055058.2:p.Gln548Glu