Canonical Allele Identifier: CA594459744

Gene: MAT1A

Linked Data

• dbSNP Id: rs1564645193
• gnomAD v2: 10-82033666-A-AT
• gnomAD v4: 10-80273910-A-AT
• MyVariant Identifiers: chr10:g.82033666_82033667insT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80273912dup , CM000672.2:g.80273912dup	GRCh38
NC_000010.10:g.82033668dup , CM000672.1:g.82033668dup	GRCh37
NC_000010.9:g.82023648dup	NCBI36
NG_008083.1:g.20768dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.1086-28dup MANE Select	ENSP00000361287.3:n.1086-28dup
ENST00000372213.7:c.1086-28dup	ENSP00000361287.3:n.1086-28dup
ENST00000480845.1:n.318-28dup
ENST00000485270.5:n.598-28dup
NM_000429.2:c.1086-28dup	NP_000420.1:n.1086-28dup
XM_005269842.3:c.1086-28dup	XP_005269899.1:n.1086-28dup
XM_005269843.3:c.963-28dup	XP_005269900.1:n.963-28dup
NM_000429.3:c.1086-28dup MANE Select	NP_000420.1:n.1086-28dup