Canonical Allele Identifier: CA357430791

Gene: ADAMTS3

Linked Data

• MyVariant Identifiers: chr4:g.73179439C>G (hg19) ; chr4:g.72313722C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313722C>G , CM000666.2:g.72313722C>G	GRCh38
NC_000004.11:g.73179439C>G , CM000666.1:g.73179439C>G	GRCh37
NC_000004.10:g.73398303C>G	NCBI36
NG_046955.1:g.260078G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1700G>C MANE Select	ENSP00000286657.4:p.Cys567Ser
ENST00000286657.8:c.1700G>C	ENSP00000286657.4:p.Cys567Ser
ENST00000622135.1:c.1700G>C	ENSP00000480055.1:p.Cys567Ser
NM_014243.2:c.1700G>C	NP_055058.2:p.Cys567Ser
XM_011532421.1:c.1643G>C	XP_011530723.1:p.Cys548Ser
XM_011532422.1:c.1616G>C	XP_011530724.1:p.Cys539Ser
XM_011532423.1:c.1058G>C	XP_011530725.1:p.Cys353Ser
XM_011532424.1:c.968G>C	XP_011530726.1:p.Cys323Ser
XM_011532421.2:c.1643G>C	XP_011530723.1:p.Cys548Ser
XM_011532422.3:c.1616G>C	XP_011530724.1:p.Cys539Ser
NM_014243.3:c.1700G>C MANE Select	NP_055058.2:p.Cys567Ser