Canonical Allele Identifier: CA2550958755

Gene: MAT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80275191_80275192insTGAACGAA , CM000672.2:g.80275191_80275192insTGAACGAA	GRCh38
NC_000010.10:g.82034947_82034948insTGAACGAA , CM000672.1:g.82034947_82034948insTGAACGAA	GRCh37
NC_000010.9:g.82024927_82024928insTGAACGAA	NCBI36
NG_008083.1:g.19487_19488insTTCGTTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.776_777insTTCGTTCA MANE Select	ENSP00000361287.3:p.Gly260SerfsTer?
ENST00000372213.7:c.776_777insTTCGTTCA	ENSP00000361287.3:p.Gly260SerfsTer?
ENST00000480845.1:n.8_9insTTCGTTCA
ENST00000485270.5:n.288_289insTTCGTTCA
NM_000429.2:c.776_777insTTCGTTCA	NP_000420.1:p.Gly260SerfsTer?
XM_005269842.3:c.776_777insTTCGTTCA	XP_005269899.1:p.Gly260SerfsTer?
XM_005269843.3:c.653_654insTTCGTTCA	XP_005269900.1:p.Gly219SerfsTer?
NM_000429.3:c.776_777insTTCGTTCA MANE Select	NP_000420.1:p.Gly260SerfsTer?