Canonical Allele Identifier: CA2593714716
Gene: MATN3 HGNC NCBI
WDR35-DT HGNC NCBI

Linked Data

gnomAD v3: 2-19998396-C-A
gnomAD v4: 2-19998396-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19998396C>A , CM000664.2:g.19998396C>A GRCh38
NC_000002.11:g.20198157C>A , CM000664.1:g.20198157C>A GRCh37
NC_000002.10:g.20061638C>A NCBI36
NG_008087.1:g.19299G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.1169-1137G>T (MATN3) MANE Select ENSP00000383894.3:n.1169-1137G>T
ENST00000407540.7:c.1169-1137G>T (MATN3) ENSP00000383894.3:n.1169-1137G>T
ENST00000421259.2:c.1043-1137G>T (MATN3) ENSP00000398753.2:n.1043-1137G>T
NM_002381.4:c.1169-1137G>T (MATN3) NP_002372.1:n.1169-1137G>T
NR_110235.1:n.292-810C>A (WDR35-DT)
NM_002381.5:c.1169-1137G>T (MATN3) MANE Select NP_002372.1:n.1169-1137G>T
Search 100 bp 5'
Search 100 bp 3'