Canonical Allele Identifier: CA798160807

Gene: ADAMTS3

Linked Data

• dbSNP Id: rs1468120896
• gnomAD v3: 4-72313969-A-T
• gnomAD v4: 4-72313969-A-T
• MyVariant Identifiers: chr4:g.73179686A>T (hg19) ; chr4:g.72313969A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313969A>T , CM000666.2:g.72313969A>T	GRCh38
NC_000004.11:g.73179686A>T , CM000666.1:g.73179686A>T	GRCh37
NC_000004.10:g.73398550A>T	NCBI36
NG_046955.1:g.259831T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1600-147T>A MANE Select	ENSP00000286657.4:n.1600-147T>A
ENST00000286657.8:c.1600-147T>A	ENSP00000286657.4:n.1600-147T>A
ENST00000622135.1:c.1600-147T>A	ENSP00000480055.1:n.1600-147T>A
NM_014243.2:c.1600-147T>A	NP_055058.2:n.1600-147T>A
XM_011532421.1:c.1543-147T>A	XP_011530723.1:n.1543-147T>A
XM_011532422.1:c.1516-147T>A	XP_011530724.1:n.1516-147T>A
XM_011532423.1:c.958-147T>A	XP_011530725.1:n.958-147T>A
XM_011532424.1:c.868-147T>A	XP_011530726.1:n.868-147T>A
XM_011532421.2:c.1543-147T>A	XP_011530723.1:n.1543-147T>A
XM_011532422.3:c.1516-147T>A	XP_011530724.1:n.1516-147T>A
NM_014243.3:c.1600-147T>A MANE Select	NP_055058.2:n.1600-147T>A