Canonical Allele Identifier: CA43398426
Gene: MATN3 HGNC NCBI
WDR35-DT HGNC NCBI

Linked Data

dbSNP Id: rs1012930553
gnomAD v3: 2-19998225-T-A
gnomAD v4: 2-19998225-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19998225T>A , CM000664.2:g.19998225T>A GRCh38
NC_000002.11:g.20197986T>A , CM000664.1:g.20197986T>A GRCh37
NC_000002.10:g.20061467T>A NCBI36
NG_008087.1:g.19470A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.1169-966A>T (MATN3) MANE Select ENSP00000383894.3:n.1169-966A>T
ENST00000407540.7:c.1169-966A>T (MATN3) ENSP00000383894.3:n.1169-966A>T
ENST00000421259.2:c.1043-966A>T (MATN3) ENSP00000398753.2:n.1043-966A>T
NM_002381.4:c.1169-966A>T (MATN3) NP_002372.1:n.1169-966A>T
NR_110235.1:n.292-981T>A (WDR35-DT)
NM_002381.5:c.1169-966A>T (MATN3) MANE Select NP_002372.1:n.1169-966A>T