Canonical Allele Identifier: CA377362874
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280307A>G , CM000672.2:g.80280307A>G GRCh38
NC_000010.10:g.82040063A>G , CM000672.1:g.82040063A>G GRCh37
NC_000010.9:g.82030043A>G NCBI36
NG_008083.1:g.14372T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.415T>C MANE Select ENSP00000361287.3:p.Phe139Leu
ENST00000372213.7:c.415T>C ENSP00000361287.3:p.Phe139Leu
ENST00000455001.1:c.226T>C ENSP00000414961.1:p.Phe76Leu
NM_000429.2:c.415T>C NP_000420.1:p.Phe139Leu
XM_005269842.3:c.415T>C XP_005269899.1:p.Phe139Leu
XM_005269843.3:c.292T>C XP_005269900.1:p.Phe98Leu
NM_000429.3:c.415T>C MANE Select NP_000420.1:p.Phe139Leu