Canonical Allele Identifier: CA2658010831

Gene: MATN3

Linked Data

• gnomAD v4: 2-20005632-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20005632T>G , CM000664.2:g.20005632T>G	GRCh38
NC_000002.11:g.20205393T>G , CM000664.1:g.20205393T>G	GRCh37
NC_000002.10:g.20068874T>G	NCBI36
NG_008087.1:g.12063A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.790+112A>C MANE Select	ENSP00000383894.3:n.790+112A>C
ENST00000407540.7:c.790+112A>C	ENSP00000383894.3:n.790+112A>C
ENST00000421259.2:c.790+112A>C	ENSP00000398753.2:n.790+112A>C
NM_002381.4:c.790+112A>C	NP_002372.1:n.790+112A>C
NM_002381.5:c.790+112A>C MANE Select	NP_002372.1:n.790+112A>C