Canonical Allele Identifier: CA357430837

Gene: ADAMTS3

Linked Data

• gnomAD v4: 4-72313745-T-G
• MyVariant Identifiers: chr4:g.73179462T>G (hg19) ; chr4:g.72313745T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313745T>G , CM000666.2:g.72313745T>G	GRCh38
NC_000004.11:g.73179462T>G , CM000666.1:g.73179462T>G	GRCh37
NC_000004.10:g.73398326T>G	NCBI36
NG_046955.1:g.260055A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000286657.10:c.1677A>C MANE Select	ENSP00000286657.4:p.Lys559Asn
ENST00000286657.8:c.1677A>C	ENSP00000286657.4:p.Lys559Asn
ENST00000622135.1:c.1677A>C	ENSP00000480055.1:p.Lys559Asn
NM_014243.2:c.1677A>C	NP_055058.2:p.Lys559Asn
XM_011532421.1:c.1620A>C	XP_011530723.1:p.Lys540Asn
XM_011532422.1:c.1593A>C	XP_011530724.1:p.Lys531Asn
XM_011532423.1:c.1035A>C	XP_011530725.1:p.Lys345Asn
XM_011532424.1:c.945A>C	XP_011530726.1:p.Lys315Asn
XM_011532421.2:c.1620A>C	XP_011530723.1:p.Lys540Asn
XM_011532422.3:c.1593A>C	XP_011530724.1:p.Lys531Asn
NM_014243.3:c.1677A>C MANE Select	NP_055058.2:p.Lys559Asn