Canonical Allele Identifier: CA918715945

Gene: MAT1A

Linked Data

• dbSNP Id: rs1589480250

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80275380_80275432del , CM000672.2:g.80275380_80275432del	GRCh38
NC_000010.10:g.82035136_82035188del , CM000672.1:g.82035136_82035188del	GRCh37
NC_000010.9:g.82025116_82025168del	NCBI36
NG_008083.1:g.19248_19300del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.769-232_769-180del MANE Select	ENSP00000361287.3:n.769-232_769-180del
ENST00000372213.7:c.769-232_769-180del	ENSP00000361287.3:n.769-232_769-180del
ENST00000485270.5:n.49_101del
NM_000429.2:c.769-232_769-180del	NP_000420.1:n.769-232_769-180del
XM_005269842.3:c.769-232_769-180del	XP_005269899.1:n.769-232_769-180del
XM_005269843.3:c.646-232_646-180del	XP_005269900.1:n.646-232_646-180del
NM_000429.3:c.769-232_769-180del MANE Select	NP_000420.1:n.769-232_769-180del