Canonical Allele Identifier: CA2536161779
Gene: MAT1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280312_80280313insT , CM000672.2:g.80280312_80280313insT GRCh38
NC_000010.10:g.82040068_82040069insT , CM000672.1:g.82040068_82040069insT GRCh37
NC_000010.9:g.82030048_82030049insT NCBI36
NG_008083.1:g.14366_14367insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.409_410insA MANE Select ENSP00000361287.3:p.Leu137TyrfsTer?
ENST00000372213.7:c.409_410insA ENSP00000361287.3:p.Leu137TyrfsTer?
ENST00000455001.1:c.220_221insA ENSP00000414961.1:p.Leu74TyrfsTer?
NM_000429.2:c.409_410insA NP_000420.1:p.Leu137TyrfsTer?
XM_005269842.3:c.409_410insA XP_005269899.1:p.Leu137TyrfsTer?
XM_005269843.3:c.286_287insA XP_005269900.1:p.Leu96TyrfsTer?
NM_000429.3:c.409_410insA MANE Select NP_000420.1:p.Leu137TyrfsTer?