Canonical Allele Identifier: CA357430795

Gene: ADAMTS3

Linked Data

• dbSNP Id: rs750241294
• gnomAD v2: 4-73179442-G-T
• gnomAD v4: 4-72313725-G-T
• MyVariant Identifiers: chr4:g.73179442G>T (hg19) ; chr4:g.72313725G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313725G>T , CM000666.2:g.72313725G>T	GRCh38
NC_000004.11:g.73179442G>T , CM000666.1:g.73179442G>T	GRCh37
NC_000004.10:g.73398306G>T	NCBI36
NG_046955.1:g.260075C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1697C>A MANE Select	ENSP00000286657.4:p.Thr566Lys
ENST00000286657.8:c.1697C>A	ENSP00000286657.4:p.Thr566Lys
ENST00000622135.1:c.1697C>A	ENSP00000480055.1:p.Thr566Lys
NM_014243.2:c.1697C>A	NP_055058.2:p.Thr566Lys
XM_011532421.1:c.1640C>A	XP_011530723.1:p.Thr547Lys
XM_011532422.1:c.1613C>A	XP_011530724.1:p.Thr538Lys
XM_011532423.1:c.1055C>A	XP_011530725.1:p.Thr352Lys
XM_011532424.1:c.965C>A	XP_011530726.1:p.Thr322Lys
XM_011532421.2:c.1640C>A	XP_011530723.1:p.Thr547Lys
XM_011532422.3:c.1613C>A	XP_011530724.1:p.Thr538Lys
NM_014243.3:c.1697C>A MANE Select	NP_055058.2:p.Thr566Lys