Canonical Allele Identifier: CA345950411
Gene: MATN3 HGNC NCBI

Linked Data

gnomAD v4: 2-20005771-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005771A>C , CM000664.2:g.20005771A>C GRCh38
NC_000002.11:g.20205532A>C , CM000664.1:g.20205532A>C GRCh37
NC_000002.10:g.20069013A>C NCBI36
NG_008087.1:g.11924T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.763T>G MANE Select ENSP00000383894.3:p.Ser255Ala
ENST00000407540.7:c.763T>G ENSP00000383894.3:p.Ser255Ala
ENST00000421259.2:c.763T>G ENSP00000398753.2:p.Ser255Ala
NM_002381.4:c.763T>G NP_002372.1:p.Ser255Ala
NM_002381.5:c.763T>G MANE Select NP_002372.1:p.Ser255Ala