Canonical Allele Identifier: CA2493007782
Gene: MATN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005669A= , CM000664.2:g.20005669A= GRCh38
NC_000002.11:g.20205430A= , CM000664.1:g.20205430A= GRCh37
NC_000002.10:g.20068911A= NCBI36
NG_008087.1:g.12026T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.790+75T= MANE Select ENSP00000383894.3:n.790+75T=
ENST00000407540.7:c.790+75T= ENSP00000383894.3:n.790+75T=
ENST00000421259.2:c.790+75T= ENSP00000398753.2:n.790+75T=
NM_002381.4:c.790+75T= NP_002372.1:n.790+75T=
NM_002381.5:c.790+75T= MANE Select NP_002372.1:n.790+75T=