Canonical Allele Identifier: CA357430789

Gene: ADAMTS3

Linked Data

• gnomAD v4: 4-72313721-A-C
• MyVariant Identifiers: chr4:g.73179438A>C (hg19) ; chr4:g.72313721A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313721A>C , CM000666.2:g.72313721A>C	GRCh38
NC_000004.11:g.73179438A>C , CM000666.1:g.73179438A>C	GRCh37
NC_000004.10:g.73398302A>C	NCBI36
NG_046955.1:g.260079T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1701T>G MANE Select	ENSP00000286657.4:p.Cys567Trp
ENST00000286657.8:c.1701T>G	ENSP00000286657.4:p.Cys567Trp
ENST00000622135.1:c.1701T>G	ENSP00000480055.1:p.Cys567Trp
NM_014243.2:c.1701T>G	NP_055058.2:p.Cys567Trp
XM_011532421.1:c.1644T>G	XP_011530723.1:p.Cys548Trp
XM_011532422.1:c.1617T>G	XP_011530724.1:p.Cys539Trp
XM_011532423.1:c.1059T>G	XP_011530725.1:p.Cys353Trp
XM_011532424.1:c.969T>G	XP_011530726.1:p.Cys323Trp
XM_011532421.2:c.1644T>G	XP_011530723.1:p.Cys548Trp
XM_011532422.3:c.1617T>G	XP_011530724.1:p.Cys539Trp
NM_014243.3:c.1701T>G MANE Select	NP_055058.2:p.Cys567Trp