Canonical Allele Identifier: CA2609912758

Gene: MAT1A

Linked Data

• gnomAD v4: 10-80273931-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80273934del , CM000672.2:g.80273934del	GRCh38
NC_000010.10:g.82033690del , CM000672.1:g.82033690del	GRCh37
NC_000010.9:g.82023670del	NCBI36
NG_008083.1:g.20747del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.1086-49del MANE Select	ENSP00000361287.3:n.1086-49del
ENST00000372213.7:c.1086-49del	ENSP00000361287.3:n.1086-49del
ENST00000480845.1:n.318-49del
ENST00000485270.5:n.598-49del
NM_000429.2:c.1086-49del	NP_000420.1:n.1086-49del
XM_005269842.3:c.1086-49del	XP_005269899.1:n.1086-49del
XM_005269843.3:c.963-49del	XP_005269900.1:n.963-49del
NM_000429.3:c.1086-49del MANE Select	NP_000420.1:n.1086-49del