Canonical Allele Identifier: CA345950497
Gene: MATN3 HGNC NCBI

Linked Data

gnomAD v4: 2-20005810-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005810C>T , CM000664.2:g.20005810C>T GRCh38
NC_000002.11:g.20205571C>T , CM000664.1:g.20205571C>T GRCh37
NC_000002.10:g.20069052C>T NCBI36
NG_008087.1:g.11885G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.724G>A MANE Select ENSP00000383894.3:p.Val242Ile
ENST00000407540.7:c.724G>A ENSP00000383894.3:p.Val242Ile
ENST00000421259.2:c.724G>A ENSP00000398753.2:p.Val242Ile
NM_002381.4:c.724G>A NP_002372.1:p.Val242Ile
NM_002381.5:c.724G>A MANE Select NP_002372.1:p.Val242Ile