Canonical Allele Identifier: CA2956881

Gene: ADAMTS3

Linked Data

• ClinVar Variation Id: 3054087
• ClinVar RCV Id: RCV003962246
• dbSNP Id: rs138041073
• ExAC: 4:73179462 T / C
• gnomAD v2: 4-73179462-T-C
• gnomAD v3: 4-72313745-T-C
• gnomAD v4: 4-72313745-T-C
• MyVariant Identifiers: chr4:g.73179462T>C (hg19) ; chr4:g.72313745T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313745T>C , CM000666.2:g.72313745T>C	GRCh38
NC_000004.11:g.73179462T>C , CM000666.1:g.73179462T>C	GRCh37
NC_000004.10:g.73398326T>C	NCBI36
NG_046955.1:g.260055A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1677A>G MANE Select	ENSP00000286657.4:p.Lys559=
ENST00000286657.8:c.1677A>G	ENSP00000286657.4:p.Lys559=
ENST00000622135.1:c.1677A>G	ENSP00000480055.1:p.Lys559=
NM_014243.2:c.1677A>G	NP_055058.2:p.Lys559=
XM_011532421.1:c.1620A>G	XP_011530723.1:p.Lys540=
XM_011532422.1:c.1593A>G	XP_011530724.1:p.Lys531=
XM_011532423.1:c.1035A>G	XP_011530725.1:p.Lys345=
XM_011532424.1:c.945A>G	XP_011530726.1:p.Lys315=
XM_011532421.2:c.1620A>G	XP_011530723.1:p.Lys540=
XM_011532422.3:c.1593A>G	XP_011530724.1:p.Lys531=
NM_014243.3:c.1677A>G MANE Select	NP_055058.2:p.Lys559=