Canonical Allele Identifier: CA2493007894
Gene: MATN3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005914G= , CM000664.2:g.20005914G= GRCh38
NC_000002.11:g.20205675G= , CM000664.1:g.20205675G= GRCh37
NC_000002.10:g.20069156G= NCBI36
NG_008087.1:g.11781C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.620C= MANE Select ENSP00000383894.3:p.Ala207=
ENST00000407540.7:c.620C= ENSP00000383894.3:p.Ala207=
ENST00000421259.2:c.620C= ENSP00000398753.2:p.Ala207=
NM_002381.4:c.620C= NP_002372.1:p.Ala207=
NM_002381.5:c.620C= MANE Select NP_002372.1:p.Ala207=
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