Canonical Allele Identifier: CA2609913467

Gene: MAT1A

Linked Data

• gnomAD v4: 10-80275466-CCCTAATG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80275470_80275476del , CM000672.2:g.80275470_80275476del	GRCh38
NC_000010.10:g.82035226_82035232del , CM000672.1:g.82035226_82035232del	GRCh37
NC_000010.9:g.82025206_82025212del	NCBI36
NG_008083.1:g.19206_19212del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.769-274_769-268del MANE Select	ENSP00000361287.3:n.769-274_769-268del
ENST00000372213.7:c.769-274_769-268del	ENSP00000361287.3:n.769-274_769-268del
ENST00000485270.5:n.7_13del
NM_000429.2:c.769-274_769-268del	NP_000420.1:n.769-274_769-268del
XM_005269842.3:c.769-274_769-268del	XP_005269899.1:n.769-274_769-268del
XM_005269843.3:c.646-274_646-268del	XP_005269900.1:n.646-274_646-268del
NM_000429.3:c.769-274_769-268del MANE Select	NP_000420.1:n.769-274_769-268del