Canonical Allele Identifier: CA439879073

Gene: ADAMTS3

Linked Data

• dbSNP Id: rs1426303722
• gnomAD v2: 4-73179405-G-A
• MyVariant Identifiers: chr4:g.73179405G>A (hg19) ; chr4:g.72313688G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313688G>A , CM000666.2:g.72313688G>A	GRCh38
NC_000004.11:g.73179405G>A , CM000666.1:g.73179405G>A	GRCh37
NC_000004.10:g.73398269G>A	NCBI36
NG_046955.1:g.260112C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1734C>T MANE Select	ENSP00000286657.4:p.Cys578=
ENST00000286657.8:c.1734C>T	ENSP00000286657.4:p.Cys578=
ENST00000622135.1:c.1734C>T	ENSP00000480055.1:p.Cys578=
NM_014243.2:c.1734C>T	NP_055058.2:p.Cys578=
XM_011532421.1:c.1677C>T	XP_011530723.1:p.Cys559=
XM_011532422.1:c.1650C>T	XP_011530724.1:p.Cys550=
XM_011532423.1:c.1092C>T	XP_011530725.1:p.Cys364=
XM_011532424.1:c.1002C>T	XP_011530726.1:p.Cys334=
XM_011532421.2:c.1677C>T	XP_011530723.1:p.Cys559=
XM_011532422.3:c.1650C>T	XP_011530724.1:p.Cys550=
NM_014243.3:c.1734C>T MANE Select	NP_055058.2:p.Cys578=