Canonical Allele Identifier: CA2670948889

Gene: ADAMTS3

Linked Data

• gnomAD v4: 4-72313548-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313548G>A , CM000666.2:g.72313548G>A	GRCh38
NC_000004.11:g.73179265G>A , CM000666.1:g.73179265G>A	GRCh37
NC_000004.10:g.73398129G>A	NCBI36
NG_046955.1:g.260252C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1745+129C>T MANE Select	ENSP00000286657.4:n.1745+129C>T
ENST00000286657.8:c.1745+129C>T	ENSP00000286657.4:n.1745+129C>T
ENST00000622135.1:c.1745+129C>T	ENSP00000480055.1:n.1745+129C>T
NM_014243.2:c.1745+129C>T	NP_055058.2:n.1745+129C>T
XM_011532421.1:c.1688+129C>T	XP_011530723.1:n.1688+129C>T
XM_011532422.1:c.1661+129C>T	XP_011530724.1:n.1661+129C>T
XM_011532423.1:c.1103+129C>T	XP_011530725.1:n.1103+129C>T
XM_011532424.1:c.1013+129C>T	XP_011530726.1:n.1013+129C>T
XM_011532421.2:c.1688+129C>T	XP_011530723.1:n.1688+129C>T
XM_011532422.3:c.1661+129C>T	XP_011530724.1:n.1661+129C>T
NM_014243.3:c.1745+129C>T MANE Select	NP_055058.2:n.1745+129C>T