Canonical Allele Identifier: CA99549879

Gene: ADAMTS3

Linked Data

• dbSNP Id: rs531067220
• gnomAD v3: 4-72314009-T-C
• gnomAD v4: 4-72314009-T-C
• MyVariant Identifiers: chr4:g.73179726T>C (hg19) ; chr4:g.72314009T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72314009T>C , CM000666.2:g.72314009T>C	GRCh38
NC_000004.11:g.73179726T>C , CM000666.1:g.73179726T>C	GRCh37
NC_000004.10:g.73398590T>C	NCBI36
NG_046955.1:g.259791A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1600-187A>G MANE Select	ENSP00000286657.4:n.1600-187A>G
ENST00000286657.8:c.1600-187A>G	ENSP00000286657.4:n.1600-187A>G
ENST00000622135.1:c.1600-187A>G	ENSP00000480055.1:n.1600-187A>G
NM_014243.2:c.1600-187A>G	NP_055058.2:n.1600-187A>G
XM_011532421.1:c.1543-187A>G	XP_011530723.1:n.1543-187A>G
XM_011532422.1:c.1516-187A>G	XP_011530724.1:n.1516-187A>G
XM_011532423.1:c.958-187A>G	XP_011530725.1:n.958-187A>G
XM_011532424.1:c.868-187A>G	XP_011530726.1:n.868-187A>G
XM_011532421.2:c.1543-187A>G	XP_011530723.1:n.1543-187A>G
XM_011532422.3:c.1516-187A>G	XP_011530724.1:n.1516-187A>G
NM_014243.3:c.1600-187A>G MANE Select	NP_055058.2:n.1600-187A>G