Canonical Allele Identifier: CA2749074455

Gene: MATN3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20005614A>C , CM000664.2:g.20005614A>C	GRCh38
NC_000002.11:g.20205375A>C , CM000664.1:g.20205375A>C	GRCh37
NC_000002.10:g.20068856A>C	NCBI36
NG_008087.1:g.12081T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.790+130T>G MANE Select	ENSP00000383894.3:n.790+130T>G
ENST00000407540.7:c.790+130T>G	ENSP00000383894.3:n.790+130T>G
ENST00000421259.2:c.790+130T>G	ENSP00000398753.2:n.790+130T>G
NM_002381.4:c.790+130T>G	NP_002372.1:n.790+130T>G
NM_002381.5:c.790+130T>G MANE Select	NP_002372.1:n.790+130T>G