Canonical Allele Identifier: CA377360021
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273789C>G , CM000672.2:g.80273789C>G GRCh38
NC_000010.10:g.82033545C>G , CM000672.1:g.82033545C>G GRCh37
NC_000010.9:g.82023525C>G NCBI36
NG_008083.1:g.20890G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.1180G>C MANE Select ENSP00000361287.3:p.Val394Leu
ENST00000372213.7:c.1180G>C ENSP00000361287.3:p.Val394Leu
ENST00000480845.1:n.412G>C
ENST00000485270.5:n.692G>C
NM_000429.2:c.1180G>C NP_000420.1:p.Val394Leu
XM_005269842.3:c.1180G>C XP_005269899.1:p.Val394Leu
XM_005269843.3:c.1057G>C XP_005269900.1:p.Val353Leu
NM_000429.3:c.1180G>C MANE Select NP_000420.1:p.Val394Leu