Canonical Allele Identifier: CA763239004
Gene: MATN3 HGNC NCBI
WDR35-DT HGNC NCBI

Linked Data

dbSNP Id: rs1379676834
gnomAD v3: 2-19998294-A-G
gnomAD v4: 2-19998294-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19998294A>G , CM000664.2:g.19998294A>G GRCh38
NC_000002.11:g.20198055A>G , CM000664.1:g.20198055A>G GRCh37
NC_000002.10:g.20061536A>G NCBI36
NG_008087.1:g.19401T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.1169-1035T>C (MATN3) MANE Select ENSP00000383894.3:n.1169-1035T>C
ENST00000407540.7:c.1169-1035T>C (MATN3) ENSP00000383894.3:n.1169-1035T>C
ENST00000421259.2:c.1043-1035T>C (MATN3) ENSP00000398753.2:n.1043-1035T>C
NM_002381.4:c.1169-1035T>C (MATN3) NP_002372.1:n.1169-1035T>C
NR_110235.1:n.292-912A>G (WDR35-DT)
NM_002381.5:c.1169-1035T>C (MATN3) MANE Select NP_002372.1:n.1169-1035T>C