Canonical Allele Identifier: CA377362741
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280248G>T , CM000672.2:g.80280248G>T GRCh38
NC_000010.10:g.82040004G>T , CM000672.1:g.82040004G>T GRCh37
NC_000010.9:g.82029984G>T NCBI36
NG_008083.1:g.14431C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.474C>A MANE Select ENSP00000361287.3:p.His158Gln
ENST00000372213.7:c.474C>A ENSP00000361287.3:p.His158Gln
ENST00000455001.1:c.285C>A ENSP00000414961.1:p.His95Gln
NM_000429.2:c.474C>A NP_000420.1:p.His158Gln
XM_005269842.3:c.474C>A XP_005269899.1:p.His158Gln
XM_005269843.3:c.351C>A XP_005269900.1:p.His117Gln
NM_000429.3:c.474C>A MANE Select NP_000420.1:p.His158Gln