Canonical Allele Identifier: CA2658010880

Gene: MATN3

Linked Data

• gnomAD v4: 2-20005671-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20005671A>C , CM000664.2:g.20005671A>C	GRCh38
NC_000002.11:g.20205432A>C , CM000664.1:g.20205432A>C	GRCh37
NC_000002.10:g.20068913A>C	NCBI36
NG_008087.1:g.12024T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.790+73T>G MANE Select	ENSP00000383894.3:n.790+73T>G
ENST00000407540.7:c.790+73T>G	ENSP00000383894.3:n.790+73T>G
ENST00000421259.2:c.790+73T>G	ENSP00000398753.2:n.790+73T>G
NM_002381.4:c.790+73T>G	NP_002372.1:n.790+73T>G
NM_002381.5:c.790+73T>G MANE Select	NP_002372.1:n.790+73T>G