Canonical Allele Identifier: CA377362873
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.415T>G MANE Select ENSP00000361287.3:p.Phe139Val
ENST00000372213.7:c.415T>G ENSP00000361287.3:p.Phe139Val
ENST00000455001.1:c.226T>G ENSP00000414961.1:p.Phe76Val
NM_000429.2:c.415T>G NP_000420.1:p.Phe139Val
XM_005269842.3:c.415T>G XP_005269899.1:p.Phe139Val
XM_005269843.3:c.292T>G XP_005269900.1:p.Phe98Val
NM_000429.3:c.415T>G MANE Select NP_000420.1:p.Phe139Val