Canonical Allele Identifier: CA377361597
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80276390T>G , CM000672.2:g.80276390T>G GRCh38
NC_000010.10:g.82036146T>G , CM000672.1:g.82036146T>G GRCh37
NC_000010.9:g.82026126T>G NCBI36
NG_008083.1:g.18289A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372213.8:c.754A>C MANE Select ENSP00000361287.3:p.Ile252Leu
ENST00000372213.7:c.754A>C ENSP00000361287.3:p.Ile252Leu
NM_000429.2:c.754A>C NP_000420.1:p.Ile252Leu
XM_005269842.3:c.754A>C XP_005269899.1:p.Ile252Leu
XM_005269843.3:c.631A>C XP_005269900.1:p.Ile211Leu
NM_000429.3:c.754A>C MANE Select NP_000420.1:p.Ile252Leu