Canonical Allele Identifier: CA345950446
Gene: MATN3 HGNC NCBI

Linked Data

gnomAD v4: 2-20005788-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005788C>G , CM000664.2:g.20005788C>G GRCh38
NC_000002.11:g.20205549C>G , CM000664.1:g.20205549C>G GRCh37
NC_000002.10:g.20069030C>G NCBI36
NG_008087.1:g.11907G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.746G>C MANE Select ENSP00000383894.3:p.Gly249Ala
ENST00000407540.7:c.746G>C ENSP00000383894.3:p.Gly249Ala
ENST00000421259.2:c.746G>C ENSP00000398753.2:p.Gly249Ala
NM_002381.4:c.746G>C NP_002372.1:p.Gly249Ala
NM_002381.5:c.746G>C MANE Select NP_002372.1:p.Gly249Ala