Canonical Allele Identifier: CA2493007879
Gene: MATN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005888C= , CM000664.2:g.20005888C= GRCh38
NC_000002.11:g.20205649C= , CM000664.1:g.20205649C= GRCh37
NC_000002.10:g.20069130C= NCBI36
NG_008087.1:g.11807G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.646G= MANE Select ENSP00000383894.3:p.Glu216=
ENST00000407540.7:c.646G= ENSP00000383894.3:p.Glu216=
ENST00000421259.2:c.646G= ENSP00000398753.2:p.Glu216=
NM_002381.4:c.646G= NP_002372.1:p.Glu216=
NM_002381.5:c.646G= MANE Select NP_002372.1:p.Glu216=