Canonical Allele Identifier: CA377360444
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80274611T>G , CM000672.2:g.80274611T>G GRCh38
NC_000010.10:g.82034367T>G , CM000672.1:g.82034367T>G GRCh37
NC_000010.9:g.82024347T>G NCBI36
NG_008083.1:g.20068A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372213.8:c.994A>C MANE Select ENSP00000361287.3:p.Ile332Leu
ENST00000372213.7:c.994A>C ENSP00000361287.3:p.Ile332Leu
ENST00000480845.1:n.226A>C
ENST00000485270.5:n.506A>C
NM_000429.2:c.994A>C NP_000420.1:p.Ile332Leu
XM_005269842.3:c.994A>C XP_005269899.1:p.Ile332Leu
XM_005269843.3:c.871A>C XP_005269900.1:p.Ile291Leu
NM_000429.3:c.994A>C MANE Select NP_000420.1:p.Ile332Leu