Canonical Allele Identifier: CA1028161319

Gene: MATN3

Linked Data

• dbSNP Id: rs1673082360
• gnomAD v3: 2-20005623-T-C
• gnomAD v4: 2-20005623-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20005623T>C , CM000664.2:g.20005623T>C	GRCh38
NC_000002.11:g.20205384T>C , CM000664.1:g.20205384T>C	GRCh37
NC_000002.10:g.20068865T>C	NCBI36
NG_008087.1:g.12072A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.790+121A>G MANE Select	ENSP00000383894.3:n.790+121A>G
ENST00000407540.7:c.790+121A>G	ENSP00000383894.3:n.790+121A>G
ENST00000421259.2:c.790+121A>G	ENSP00000398753.2:n.790+121A>G
NM_002381.4:c.790+121A>G	NP_002372.1:n.790+121A>G
NM_002381.5:c.790+121A>G MANE Select	NP_002372.1:n.790+121A>G