Canonical Allele Identifier: CA2493007904
Gene: MATN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005940C= , CM000664.2:g.20005940C= GRCh38
NC_000002.11:g.20205701C= , CM000664.1:g.20205701C= GRCh37
NC_000002.10:g.20069182C= NCBI36
NG_008087.1:g.11755G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.594G= MANE Select ENSP00000383894.3:p.Arg198=
ENST00000407540.7:c.594G= ENSP00000383894.3:p.Arg198=
ENST00000421259.2:c.594G= ENSP00000398753.2:p.Arg198=
NM_002381.4:c.594G= NP_002372.1:p.Arg198=
NM_002381.5:c.594G= MANE Select NP_002372.1:p.Arg198=