Canonical Allele Identifier: CA357430704

Gene: ADAMTS3

Linked Data

• gnomAD v4: 4-72313680-G-C
• MyVariant Identifiers: chr4:g.73179397G>C (hg19) ; chr4:g.72313680G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313680G>C , CM000666.2:g.72313680G>C	GRCh38
NC_000004.11:g.73179397G>C , CM000666.1:g.73179397G>C	GRCh37
NC_000004.10:g.73398261G>C	NCBI36
NG_046955.1:g.260120C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1742C>G MANE Select	ENSP00000286657.4:p.Pro581Arg
ENST00000286657.8:c.1742C>G	ENSP00000286657.4:p.Pro581Arg
ENST00000622135.1:c.1742C>G	ENSP00000480055.1:p.Pro581Arg
NM_014243.2:c.1742C>G	NP_055058.2:p.Pro581Arg
XM_011532421.1:c.1685C>G	XP_011530723.1:p.Pro562Arg
XM_011532422.1:c.1658C>G	XP_011530724.1:p.Pro553Arg
XM_011532423.1:c.1100C>G	XP_011530725.1:p.Pro367Arg
XM_011532424.1:c.1010C>G	XP_011530726.1:p.Pro337Arg
XM_011532421.2:c.1685C>G	XP_011530723.1:p.Pro562Arg
XM_011532422.3:c.1658C>G	XP_011530724.1:p.Pro553Arg
NM_014243.3:c.1742C>G MANE Select	NP_055058.2:p.Pro581Arg