Canonical Allele Identifier: CA1630834302
Gene: MATN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20006087G= , CM000664.2:g.20006087G= GRCh38
NC_000002.11:g.20205848G= , CM000664.1:g.20205848G= GRCh37
NC_000002.10:g.20069329G= NCBI36
NG_008087.1:g.11608C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.447C= MANE Select ENSP00000383894.3:p.Ala149=
ENST00000407540.7:c.447C= ENSP00000383894.3:p.Ala149=
ENST00000421259.2:c.447C= ENSP00000398753.2:p.Ala149=
NM_002381.4:c.447C= NP_002372.1:p.Ala149=
NM_002381.5:c.447C= MANE Select NP_002372.1:p.Ala149=