Canonical Allele Identifier: CA1064026239

Gene: ADAMTS3

Linked Data

• dbSNP Id: rs1719300204
• gnomAD v3: 4-72313476-A-C
• gnomAD v4: 4-72313476-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313476A>C , CM000666.2:g.72313476A>C	GRCh38
NC_000004.11:g.73179193A>C , CM000666.1:g.73179193A>C	GRCh37
NC_000004.10:g.73398057A>C	NCBI36
NG_046955.1:g.260324T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1745+201T>G MANE Select	ENSP00000286657.4:n.1745+201T>G
ENST00000286657.8:c.1745+201T>G	ENSP00000286657.4:n.1745+201T>G
ENST00000622135.1:c.1745+201T>G	ENSP00000480055.1:n.1745+201T>G
NM_014243.2:c.1745+201T>G	NP_055058.2:n.1745+201T>G
XM_011532421.1:c.1688+201T>G	XP_011530723.1:n.1688+201T>G
XM_011532422.1:c.1661+201T>G	XP_011530724.1:n.1661+201T>G
XM_011532423.1:c.1103+201T>G	XP_011530725.1:n.1103+201T>G
XM_011532424.1:c.1013+201T>G	XP_011530726.1:n.1013+201T>G
XM_011532421.2:c.1688+201T>G	XP_011530723.1:n.1688+201T>G
XM_011532422.3:c.1661+201T>G	XP_011530724.1:n.1661+201T>G
NM_014243.3:c.1745+201T>G MANE Select	NP_055058.2:n.1745+201T>G