Canonical Allele Identifier: CA2509837927

Gene: MAT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80275148_80275149insT , CM000672.2:g.80275148_80275149insT	GRCh38
NC_000010.10:g.82034904_82034905insT , CM000672.1:g.82034904_82034905insT	GRCh37
NC_000010.9:g.82024884_82024885insT	NCBI36
NG_008083.1:g.19530_19531insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.819_820insA MANE Select	ENSP00000361287.3:p.Trp274MetfsTer?
ENST00000372213.7:c.819_820insA	ENSP00000361287.3:p.Trp274MetfsTer?
ENST00000480845.1:n.51_52insA
ENST00000485270.5:n.331_332insA
NM_000429.2:c.819_820insA	NP_000420.1:p.Trp274MetfsTer?
XM_005269842.3:c.819_820insA	XP_005269899.1:p.Trp274MetfsTer?
XM_005269843.3:c.696_697insA	XP_005269900.1:p.Trp233MetfsTer?
NM_000429.3:c.819_820insA MANE Select	NP_000420.1:p.Trp274MetfsTer?