Canonical Allele Identifier: CA2568303073

Gene: MAT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80273477_80273478del , CM000672.2:g.80273477_80273478del	GRCh38
NC_000010.10:g.82033233_82033234del , CM000672.1:g.82033233_82033234del	GRCh37
NC_000010.9:g.82023213_82023214del	NCBI36
NG_008083.1:g.21204_21205del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.*306_*307del MANE Select	ENSP00000361287.3:n.*306_*307del
ENST00000372213.7:c.*306_*307del	ENSP00000361287.3:n.*306_*307del
ENST00000480845.1:n.620+106_620+107del
ENST00000485270.5:n.1006_1007del
NM_000429.2:c.*306_*307del	NP_000420.1:n.*306_*307del
XM_005269842.3:c.*306_*307del	XP_005269899.1:n.*306_*307del
XM_005269843.3:c.*306_*307del	XP_005269900.1:n.*306_*307del
NM_000429.3:c.*306_*307del MANE Select	NP_000420.1:n.*306_*307del