Canonical Allele Identifier: CA357430790

Gene: ADAMTS3

Linked Data

• gnomAD v4: 4-72313722-C-A
• MyVariant Identifiers: chr4:g.73179439C>A (hg19) ; chr4:g.72313722C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1700G>T MANE Select	ENSP00000286657.4:p.Cys567Phe
ENST00000286657.8:c.1700G>T	ENSP00000286657.4:p.Cys567Phe
ENST00000622135.1:c.1700G>T	ENSP00000480055.1:p.Cys567Phe
NM_014243.2:c.1700G>T	NP_055058.2:p.Cys567Phe
XM_011532421.1:c.1643G>T	XP_011530723.1:p.Cys548Phe
XM_011532422.1:c.1616G>T	XP_011530724.1:p.Cys539Phe
XM_011532423.1:c.1058G>T	XP_011530725.1:p.Cys353Phe
XM_011532424.1:c.968G>T	XP_011530726.1:p.Cys323Phe
XM_011532421.2:c.1643G>T	XP_011530723.1:p.Cys548Phe
XM_011532422.3:c.1616G>T	XP_011530724.1:p.Cys539Phe
NM_014243.3:c.1700G>T MANE Select	NP_055058.2:p.Cys567Phe