Canonical Allele Identifier: CA357431003

Gene: ADAMTS3

Linked Data

• gnomAD v4: 4-72313815-T-A
• MyVariant Identifiers: chr4:g.73179532T>A (hg19) ; chr4:g.72313815T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313815T>A , CM000666.2:g.72313815T>A	GRCh38
NC_000004.11:g.73179532T>A , CM000666.1:g.73179532T>A	GRCh37
NC_000004.10:g.73398396T>A	NCBI36
NG_046955.1:g.259985A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1607A>T MANE Select	ENSP00000286657.4:p.Tyr536Phe
ENST00000286657.8:c.1607A>T	ENSP00000286657.4:p.Tyr536Phe
ENST00000622135.1:c.1607A>T	ENSP00000480055.1:p.Tyr536Phe
NM_014243.2:c.1607A>T	NP_055058.2:p.Tyr536Phe
XM_011532421.1:c.1550A>T	XP_011530723.1:p.Tyr517Phe
XM_011532422.1:c.1523A>T	XP_011530724.1:p.Tyr508Phe
XM_011532423.1:c.965A>T	XP_011530725.1:p.Tyr322Phe
XM_011532424.1:c.875A>T	XP_011530726.1:p.Tyr292Phe
XM_011532421.2:c.1550A>T	XP_011530723.1:p.Tyr517Phe
XM_011532422.3:c.1523A>T	XP_011530724.1:p.Tyr508Phe
NM_014243.3:c.1607A>T MANE Select	NP_055058.2:p.Tyr536Phe