Canonical Allele Identifier: CA2658010934
Gene: MATN3 HGNC NCBI

Linked Data

gnomAD v4: 2-20005725-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005725C>G , CM000664.2:g.20005725C>G GRCh38
NC_000002.11:g.20205486C>G , CM000664.1:g.20205486C>G GRCh37
NC_000002.10:g.20068967C>G NCBI36
NG_008087.1:g.11970G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.790+19G>C MANE Select ENSP00000383894.3:n.790+19G>C
ENST00000407540.7:c.790+19G>C ENSP00000383894.3:n.790+19G>C
ENST00000421259.2:c.790+19G>C ENSP00000398753.2:n.790+19G>C
NM_002381.4:c.790+19G>C NP_002372.1:n.790+19G>C
NM_002381.5:c.790+19G>C MANE Select NP_002372.1:n.790+19G>C
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