Canonical Allele Identifier: CA2741110960

Gene: MAT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80275144_80275148del , CM000672.2:g.80275144_80275148del	GRCh38
NC_000010.10:g.82034900_82034904del , CM000672.1:g.82034900_82034904del	GRCh37
NC_000010.9:g.82024880_82024884del	NCBI36
NG_008083.1:g.19531_19535del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.820_824del MANE Select	ENSP00000361287.3:p.Trp274GlyfsTer?
ENST00000372213.7:c.820_824del	ENSP00000361287.3:p.Trp274GlyfsTer?
ENST00000480845.1:n.52_56del
ENST00000485270.5:n.332_336del
NM_000429.2:c.820_824del	NP_000420.1:p.Trp274GlyfsTer?
XM_005269842.3:c.820_824del	XP_005269899.1:p.Trp274GlyfsTer?
XM_005269843.3:c.697_701del	XP_005269900.1:p.Trp233GlyfsTer?
NM_000429.3:c.820_824del MANE Select	NP_000420.1:p.Trp274GlyfsTer?