Canonical Allele Identifier: CA594459787

Gene: MAT1A

Linked Data

• dbSNP Id: rs1392174054
• gnomAD v2: 10-82033726-G-GAA
• gnomAD v3: 10-80273970-G-GAA
• gnomAD v4: 10-80273970-G-GAA
• MyVariant Identifiers: chr10:g.82033726_82033727insAA (hg19) ; chr10:g.80273970_80273971insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80273971_80273972dup , CM000672.2:g.80273971_80273972dup	GRCh38
NC_000010.10:g.82033727_82033728dup , CM000672.1:g.82033727_82033728dup	GRCh37
NC_000010.9:g.82023707_82023708dup	NCBI36
NG_008083.1:g.20707_20708dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.1086-89_1086-88dup MANE Select	ENSP00000361287.3:n.1086-89_1086-88dup
ENST00000372213.7:c.1086-89_1086-88dup	ENSP00000361287.3:n.1086-89_1086-88dup
ENST00000480845.1:n.318-89_318-88dup
ENST00000485270.5:n.598-89_598-88dup
NM_000429.2:c.1086-89_1086-88dup	NP_000420.1:n.1086-89_1086-88dup
XM_005269842.3:c.1086-89_1086-88dup	XP_005269899.1:n.1086-89_1086-88dup
XM_005269843.3:c.963-89_963-88dup	XP_005269900.1:n.963-89_963-88dup
NM_000429.3:c.1086-89_1086-88dup MANE Select	NP_000420.1:n.1086-89_1086-88dup