Canonical Allele Identifier: CA377362708
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280232T>C , CM000672.2:g.80280232T>C GRCh38
NC_000010.10:g.82039988T>C , CM000672.1:g.82039988T>C GRCh37
NC_000010.9:g.82029968T>C NCBI36
NG_008083.1:g.14447A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.490A>G MANE Select ENSP00000361287.3:p.Met164Val
ENST00000372213.7:c.490A>G ENSP00000361287.3:p.Met164Val
ENST00000455001.1:c.301A>G ENSP00000414961.1:p.Met101Val
NM_000429.2:c.490A>G NP_000420.1:p.Met164Val
XM_005269842.3:c.490A>G XP_005269899.1:p.Met164Val
XM_005269843.3:c.367A>G XP_005269900.1:p.Met123Val
NM_000429.3:c.490A>G MANE Select NP_000420.1:p.Met164Val