Canonical Allele Identifier: CA357430831

Gene: ADAMTS3

Linked Data

• MyVariant Identifiers: chr4:g.73179460A>C (hg19) ; chr4:g.72313743A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313743A>C , CM000666.2:g.72313743A>C	GRCh38
NC_000004.11:g.73179460A>C , CM000666.1:g.73179460A>C	GRCh37
NC_000004.10:g.73398324A>C	NCBI36
NG_046955.1:g.260057T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000286657.10:c.1679T>G MANE Select	ENSP00000286657.4:p.Phe560Cys
ENST00000286657.8:c.1679T>G	ENSP00000286657.4:p.Phe560Cys
ENST00000622135.1:c.1679T>G	ENSP00000480055.1:p.Phe560Cys
NM_014243.2:c.1679T>G	NP_055058.2:p.Phe560Cys
XM_011532421.1:c.1622T>G	XP_011530723.1:p.Phe541Cys
XM_011532422.1:c.1595T>G	XP_011530724.1:p.Phe532Cys
XM_011532423.1:c.1037T>G	XP_011530725.1:p.Phe346Cys
XM_011532424.1:c.947T>G	XP_011530726.1:p.Phe316Cys
XM_011532421.2:c.1622T>G	XP_011530723.1:p.Phe541Cys
XM_011532422.3:c.1595T>G	XP_011530724.1:p.Phe532Cys
NM_014243.3:c.1679T>G MANE Select	NP_055058.2:p.Phe560Cys