Canonical Allele Identifier: CA2609913007

Gene: MAT1A

Linked Data

• gnomAD v4: 10-80275241-C-CCCTCCAGCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80275242_80275243insCTCCAGCATC , CM000672.2:g.80275242_80275243insCTCCAGCATC	GRCh38
NC_000010.10:g.82034998_82034999insCTCCAGCATC , CM000672.1:g.82034998_82034999insCTCCAGCATC	GRCh37
NC_000010.9:g.82024978_82024979insCTCCAGCATC	NCBI36
NG_008083.1:g.19437_19438insATGCTGGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.769-43_769-42insATGCTGGAGG MANE Select	ENSP00000361287.3:n.769-43_769-42insATGCTGGAGG
ENST00000372213.7:c.769-43_769-42insATGCTGGAGG	ENSP00000361287.3:n.769-43_769-42insATGCTGGAGG
ENST00000485270.5:n.238_239insATGCTGGAGG
NM_000429.2:c.769-43_769-42insATGCTGGAGG	NP_000420.1:n.769-43_769-42insATGCTGGAGG
XM_005269842.3:c.769-43_769-42insATGCTGGAGG	XP_005269899.1:n.769-43_769-42insATGCTGGAGG
XM_005269843.3:c.646-43_646-42insATGCTGGAGG	XP_005269900.1:n.646-43_646-42insATGCTGGAGG
NM_000429.3:c.769-43_769-42insATGCTGGAGG MANE Select	NP_000420.1:n.769-43_769-42insATGCTGGAGG