Canonical Allele Identifier: CA357430816

Gene: ADAMTS3

Linked Data

• gnomAD v4: 4-72313737-G-A
• MyVariant Identifiers: chr4:g.73179454G>A (hg19) ; chr4:g.72313737G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000286657.10:c.1685C>T MANE Select	ENSP00000286657.4:p.Ser562Phe
ENST00000286657.8:c.1685C>T	ENSP00000286657.4:p.Ser562Phe
ENST00000622135.1:c.1685C>T	ENSP00000480055.1:p.Ser562Phe
NM_014243.2:c.1685C>T	NP_055058.2:p.Ser562Phe
XM_011532421.1:c.1628C>T	XP_011530723.1:p.Ser543Phe
XM_011532422.1:c.1601C>T	XP_011530724.1:p.Ser534Phe
XM_011532423.1:c.1043C>T	XP_011530725.1:p.Ser348Phe
XM_011532424.1:c.953C>T	XP_011530726.1:p.Ser318Phe
XM_011532421.2:c.1628C>T	XP_011530723.1:p.Ser543Phe
XM_011532422.3:c.1601C>T	XP_011530724.1:p.Ser534Phe
NM_014243.3:c.1685C>T MANE Select	NP_055058.2:p.Ser562Phe