Canonical Allele Identifier: CA2493007834
Gene: MATN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005804A= , CM000664.2:g.20005804A= GRCh38
NC_000002.11:g.20205565A= , CM000664.1:g.20205565A= GRCh37
NC_000002.10:g.20069046A= NCBI36
NG_008087.1:g.11891T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.730T= MANE Select ENSP00000383894.3:p.Tyr244=
ENST00000407540.7:c.730T= ENSP00000383894.3:p.Tyr244=
ENST00000421259.2:c.730T= ENSP00000398753.2:p.Tyr244=
NM_002381.4:c.730T= NP_002372.1:p.Tyr244=
NM_002381.5:c.730T= MANE Select NP_002372.1:p.Tyr244=