Canonical Allele Identifier: CA377362701
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280230C>A , CM000672.2:g.80280230C>A GRCh38
NC_000010.10:g.82039986C>A , CM000672.1:g.82039986C>A GRCh37
NC_000010.9:g.82029966C>A NCBI36
NG_008083.1:g.14449G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.492G>T MANE Select ENSP00000361287.3:p.Met164Ile
ENST00000372213.7:c.492G>T ENSP00000361287.3:p.Met164Ile
ENST00000455001.1:c.303G>T ENSP00000414961.1:p.Met101Ile
NM_000429.2:c.492G>T NP_000420.1:p.Met164Ile
XM_005269842.3:c.492G>T XP_005269899.1:p.Met164Ile
XM_005269843.3:c.369G>T XP_005269900.1:p.Met123Ile
NM_000429.3:c.492G>T MANE Select NP_000420.1:p.Met164Ile