Canonical Allele Identifier: CA357430817

Gene: ADAMTS3

Linked Data

• MyVariant Identifiers: chr4:g.73179454G>C (hg19) ; chr4:g.72313737G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313737G>C , CM000666.2:g.72313737G>C	GRCh38
NC_000004.11:g.73179454G>C , CM000666.1:g.73179454G>C	GRCh37
NC_000004.10:g.73398318G>C	NCBI36
NG_046955.1:g.260063C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000286657.10:c.1685C>G MANE Select	ENSP00000286657.4:p.Ser562Cys
ENST00000286657.8:c.1685C>G	ENSP00000286657.4:p.Ser562Cys
ENST00000622135.1:c.1685C>G	ENSP00000480055.1:p.Ser562Cys
NM_014243.2:c.1685C>G	NP_055058.2:p.Ser562Cys
XM_011532421.1:c.1628C>G	XP_011530723.1:p.Ser543Cys
XM_011532422.1:c.1601C>G	XP_011530724.1:p.Ser534Cys
XM_011532423.1:c.1043C>G	XP_011530725.1:p.Ser348Cys
XM_011532424.1:c.953C>G	XP_011530726.1:p.Ser318Cys
XM_011532421.2:c.1628C>G	XP_011530723.1:p.Ser543Cys
XM_011532422.3:c.1601C>G	XP_011530724.1:p.Ser534Cys
NM_014243.3:c.1685C>G MANE Select	NP_055058.2:p.Ser562Cys