Canonical Allele Identifier: CA2493007781
Gene: MATN3 HGNC NCBI

Linked Data

dbSNP Id: rs1572385515

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005664G>A , CM000664.2:g.20005664G>A GRCh38
NC_000002.11:g.20205425G>A , CM000664.1:g.20205425G>A GRCh37
NC_000002.10:g.20068906G>A NCBI36
NG_008087.1:g.12031C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.790+80C>T MANE Select ENSP00000383894.3:n.790+80C>T
ENST00000407540.7:c.790+80C>T ENSP00000383894.3:n.790+80C>T
ENST00000421259.2:c.790+80C>T ENSP00000398753.2:n.790+80C>T
NM_002381.4:c.790+80C>T NP_002372.1:n.790+80C>T
NM_002381.5:c.790+80C>T MANE Select NP_002372.1:n.790+80C>T