Canonical Allele Identifier: CA377361858
Gene: MAT1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80276439G>C , CM000672.2:g.80276439G>C GRCh38
NC_000010.10:g.82036195G>C , CM000672.1:g.82036195G>C GRCh37
NC_000010.9:g.82026175G>C NCBI36
NG_008083.1:g.18240C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.705C>G MANE Select ENSP00000361287.3:p.Tyr235Ter
ENST00000372213.7:c.705C>G ENSP00000361287.3:p.Tyr235Ter
NM_000429.2:c.705C>G NP_000420.1:p.Tyr235Ter
XM_005269842.3:c.705C>G XP_005269899.1:p.Tyr235Ter
XM_005269843.3:c.582C>G XP_005269900.1:p.Tyr194Ter
NM_000429.3:c.705C>G MANE Select NP_000420.1:p.Tyr235Ter