Canonical Allele Identifier: CA2609913317

Gene: MAT1A

Linked Data

• gnomAD v4: 10-80274944-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80274948del , CM000672.2:g.80274948del	GRCh38
NC_000010.10:g.82034704del , CM000672.1:g.82034704del	GRCh37
NC_000010.9:g.82024684del	NCBI36
NG_008083.1:g.19734del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.951+72del MANE Select	ENSP00000361287.3:n.951+72del
ENST00000372213.7:c.951+72del	ENSP00000361287.3:n.951+72del
ENST00000480845.1:n.183+72del
ENST00000485270.5:n.463+72del
NM_000429.2:c.951+72del	NP_000420.1:n.951+72del
XM_005269842.3:c.951+72del	XP_005269899.1:n.951+72del
XM_005269843.3:c.828+72del	XP_005269900.1:n.828+72del
NM_000429.3:c.951+72del MANE Select	NP_000420.1:n.951+72del