Canonical Allele Identifier: CA357430699

Gene: ADAMTS3

Linked Data

• dbSNP Id: rs1437999594
• gnomAD v2: 4-73179395-T-A
• gnomAD v4: 4-72313678-T-A
• MyVariant Identifiers: chr4:g.73179395T>A (hg19) ; chr4:g.72313678T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286657.10:c.1744A>T MANE Select	ENSP00000286657.4:p.Met582Leu
ENST00000286657.8:c.1744A>T	ENSP00000286657.4:p.Met582Leu
ENST00000622135.1:c.1744A>T	ENSP00000480055.1:p.Met582Leu
NM_014243.2:c.1744A>T	NP_055058.2:p.Met582Leu
XM_011532421.1:c.1687A>T	XP_011530723.1:p.Met563Leu
XM_011532422.1:c.1660A>T	XP_011530724.1:p.Met554Leu
XM_011532423.1:c.1102A>T	XP_011530725.1:p.Met368Leu
XM_011532424.1:c.1012A>T	XP_011530726.1:p.Met338Leu
XM_011532421.2:c.1687A>T	XP_011530723.1:p.Met563Leu
XM_011532422.3:c.1660A>T	XP_011530724.1:p.Met554Leu
NM_014243.3:c.1744A>T MANE Select	NP_055058.2:p.Met582Leu