Canonical Allele Identifier: CA6248307

Gene: MMP20 MMP20-AS1

Linked Data

• ClinVar Variation Id: 259542
• ClinVar RCV Id: RCV000252691 ; RCV000351100 ; RCV001537503
• dbSNP Id: rs1784424
• ExAC: 11:102477377 G / T
• gnomAD v2: 11-102477377-G-T
• gnomAD v3: 11-102606646-G-T
• gnomAD v4: 11-102606646-G-T
• MyVariant Identifiers: chr11:g.102477377G>T (hg19) ; chr11:g.102606646G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102606646G>T , CM000673.2:g.102606646G>T	GRCh38
NC_000011.9:g.102477377G>T , CM000673.1:g.102477377G>T	GRCh37
NC_000011.8:g.101982587G>T	NCBI36
NG_012151.1:g.23687C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260228.3:c.842C>A (MMP20) MANE Select	ENSP00000260228.2:p.Thr281Asn
ENST00000260228.2:c.842C>A (MMP20)	ENSP00000260228.2:p.Thr281Asn
ENST00000544938.1:n.298C>A (MMP20)
NM_004771.3:c.842C>A (MMP20)	NP_004762.2:p.Thr281Asn
XR_947956.1:n.448+41G>T
XR_001748340.1:n.1192+41G>T (MMP20-AS1)
NM_004771.4:c.842C>A (MMP20) MANE Select	NP_004762.2:p.Thr281Asn