Canonical Allele Identifier: CA345951092
Gene: MATN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20006098G>C , CM000664.2:g.20006098G>C GRCh38
NC_000002.11:g.20205859G>C , CM000664.1:g.20205859G>C GRCh37
NC_000002.10:g.20069340G>C NCBI36
NG_008087.1:g.11597C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.436C>G MANE Select ENSP00000383894.3:p.Leu146Val
ENST00000407540.7:c.436C>G ENSP00000383894.3:p.Leu146Val
ENST00000421259.2:c.436C>G ENSP00000398753.2:p.Leu146Val
NM_002381.4:c.436C>G NP_002372.1:p.Leu146Val
NM_002381.5:c.436C>G MANE Select NP_002372.1:p.Leu146Val