Canonical Allele Identifier: CA470467361
Gene: MAT1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.82034862_82034864del (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275106_80275108del , CM000672.2:g.80275106_80275108del GRCh38
NC_000010.10:g.82034862_82034864del , CM000672.1:g.82034862_82034864del GRCh37
NC_000010.9:g.82024842_82024844del NCBI36
NG_008083.1:g.19571_19573del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.860_862del MANE Select ENSP00000361287.3:p.Tyr287_Thr288delinsSer
ENST00000372213.7:c.860_862del ENSP00000361287.3:p.Tyr287_Thr288delinsSer
ENST00000480845.1:n.92_94del
ENST00000485270.5:n.372_374del
NM_000429.2:c.860_862del NP_000420.1:p.Tyr287_Thr288delinsSer
XM_005269842.3:c.860_862del XP_005269899.1:p.Tyr287_Thr288delinsSer
XM_005269843.3:c.737_739del XP_005269900.1:p.Tyr246_Thr247delinsSer
NM_000429.3:c.860_862del MANE Select NP_000420.1:p.Tyr287_Thr288delinsSer
Search 100 bp 5'
Search 100 bp 3'