Canonical Allele Identifier: CA357430732

Gene: ADAMTS3

Linked Data

• MyVariant Identifiers: chr4:g.73179408C>A (hg19) ; chr4:g.72313691C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313691C>A , CM000666.2:g.72313691C>A	GRCh38
NC_000004.11:g.73179408C>A , CM000666.1:g.73179408C>A	GRCh37
NC_000004.10:g.73398272C>A	NCBI36
NG_046955.1:g.260109G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1731G>T MANE Select	ENSP00000286657.4:p.Gln577His
ENST00000286657.8:c.1731G>T	ENSP00000286657.4:p.Gln577His
ENST00000622135.1:c.1731G>T	ENSP00000480055.1:p.Gln577His
NM_014243.2:c.1731G>T	NP_055058.2:p.Gln577His
XM_011532421.1:c.1674G>T	XP_011530723.1:p.Gln558His
XM_011532422.1:c.1647G>T	XP_011530724.1:p.Gln549His
XM_011532423.1:c.1089G>T	XP_011530725.1:p.Gln363His
XM_011532424.1:c.999G>T	XP_011530726.1:p.Gln333His
XM_011532421.2:c.1674G>T	XP_011530723.1:p.Gln558His
XM_011532422.3:c.1647G>T	XP_011530724.1:p.Gln549His
NM_014243.3:c.1731G>T MANE Select	NP_055058.2:p.Gln577His