Canonical Allele Identifier: CA2695203382

Gene: MAT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80275192_80275193dup , CM000672.2:g.80275192_80275193dup	GRCh38
NC_000010.10:g.82034948_82034949dup , CM000672.1:g.82034948_82034949dup	GRCh37
NC_000010.9:g.82024928_82024929dup	NCBI36
NG_008083.1:g.19487_19488dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.776_777dup MANE Select	ENSP00000361287.3:p.Gly260ArgfsTer?
ENST00000372213.7:c.776_777dup	ENSP00000361287.3:p.Gly260ArgfsTer?
ENST00000480845.1:n.8_9dup
ENST00000485270.5:n.288_289dup
NM_000429.2:c.776_777dup	NP_000420.1:p.Gly260ArgfsTer?
XM_005269842.3:c.776_777dup	XP_005269899.1:p.Gly260ArgfsTer?
XM_005269843.3:c.653_654dup	XP_005269900.1:p.Gly219ArgfsTer?
NM_000429.3:c.776_777dup MANE Select	NP_000420.1:p.Gly260ArgfsTer?