Canonical Allele Identifier: CA2741110961
Gene: MAT1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275149_80275150insAA , CM000672.2:g.80275149_80275150insAA GRCh38
NC_000010.10:g.82034905_82034906insAA , CM000672.1:g.82034905_82034906insAA GRCh37
NC_000010.9:g.82024885_82024886insAA NCBI36
NG_008083.1:g.19529_19530insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.818_819insTT MANE Select ENSP00000361287.3:p.Trp274SerfsTer18
ENST00000372213.7:c.818_819insTT ENSP00000361287.3:p.Trp274SerfsTer18
ENST00000480845.1:n.50_51insTT
ENST00000485270.5:n.330_331insTT
NM_000429.2:c.818_819insTT NP_000420.1:p.Trp274SerfsTer18
XM_005269842.3:c.818_819insTT XP_005269899.1:p.Trp274SerfsTer18
XM_005269843.3:c.695_696insTT XP_005269900.1:p.Trp233SerfsTer18
NM_000429.3:c.818_819insTT MANE Select NP_000420.1:p.Trp274SerfsTer18
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