Canonical Allele Identifier: CA377362884
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280310T>G , CM000672.2:g.80280310T>G GRCh38
NC_000010.10:g.82040066T>G , CM000672.1:g.82040066T>G GRCh37
NC_000010.9:g.82030046T>G NCBI36
NG_008083.1:g.14369A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.412A>C MANE Select ENSP00000361287.3:p.Met138Leu
ENST00000372213.7:c.412A>C ENSP00000361287.3:p.Met138Leu
ENST00000455001.1:c.223A>C ENSP00000414961.1:p.Met75Leu
NM_000429.2:c.412A>C NP_000420.1:p.Met138Leu
XM_005269842.3:c.412A>C XP_005269899.1:p.Met138Leu
XM_005269843.3:c.289A>C XP_005269900.1:p.Met97Leu
NM_000429.3:c.412A>C MANE Select NP_000420.1:p.Met138Leu