Canonical Allele Identifier: CA357430700

Gene: ADAMTS3

Linked Data

• gnomAD v4: 4-72313678-T-C
• MyVariant Identifiers: chr4:g.73179395T>C (hg19) ; chr4:g.72313678T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.72313678T>C , CM000666.2:g.72313678T>C	GRCh38
NC_000004.11:g.73179395T>C , CM000666.1:g.73179395T>C	GRCh37
NC_000004.10:g.73398259T>C	NCBI36
NG_046955.1:g.260122A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1744A>G MANE Select	ENSP00000286657.4:p.Met582Val
ENST00000286657.8:c.1744A>G	ENSP00000286657.4:p.Met582Val
ENST00000622135.1:c.1744A>G	ENSP00000480055.1:p.Met582Val
NM_014243.2:c.1744A>G	NP_055058.2:p.Met582Val
XM_011532421.1:c.1687A>G	XP_011530723.1:p.Met563Val
XM_011532422.1:c.1660A>G	XP_011530724.1:p.Met554Val
XM_011532423.1:c.1102A>G	XP_011530725.1:p.Met368Val
XM_011532424.1:c.1012A>G	XP_011530726.1:p.Met338Val
XM_011532421.2:c.1687A>G	XP_011530723.1:p.Met563Val
XM_011532422.3:c.1660A>G	XP_011530724.1:p.Met554Val
NM_014243.3:c.1744A>G MANE Select	NP_055058.2:p.Met582Val