Canonical Allele Identifier: CA2609912366

Gene: MAT1A

Linked Data

• gnomAD v4: 10-80273409-G-GAACAC

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80273410_80273411insACACA , CM000672.2:g.80273410_80273411insACACA	GRCh38
NC_000010.10:g.82033166_82033167insACACA , CM000672.1:g.82033166_82033167insACACA	GRCh37
NC_000010.9:g.82023146_82023147insACACA	NCBI36
NG_008083.1:g.21269_21270insGTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.*371_*372insGTGTT MANE Select	ENSP00000361287.3:n.*371_*372insGTGTT
ENST00000372213.7:c.*371_*372insGTGTT	ENSP00000361287.3:n.*371_*372insGTGTT
ENST00000480845.1:n.620+171_620+172insGTGTT
ENST00000485270.5:n.1071_1072insGTGTT
NM_000429.2:c.*371_*372insGTGTT	NP_000420.1:n.*371_*372insGTGTT
XM_005269842.3:c.*371_*372insGTGTT	XP_005269899.1:n.*371_*372insGTGTT
XM_005269843.3:c.*371_*372insGTGTT	XP_005269900.1:n.*371_*372insGTGTT
NM_000429.3:c.*371_*372insGTGTT MANE Select	NP_000420.1:n.*371_*372insGTGTT