Canonical Allele Identifier: CA2609912912

Gene: MAT1A

Linked Data

• gnomAD v4: 10-80274496-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80274497_80274498dup , CM000672.2:g.80274497_80274498dup	GRCh38
NC_000010.10:g.82034253_82034254dup , CM000672.1:g.82034253_82034254dup	GRCh37
NC_000010.9:g.82024233_82024234dup	NCBI36
NG_008083.1:g.20181_20182dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.1085+22_1085+23dup MANE Select	ENSP00000361287.3:n.1085+22_1085+23dup
ENST00000372213.7:c.1085+22_1085+23dup	ENSP00000361287.3:n.1085+22_1085+23dup
ENST00000480845.1:n.317+22_317+23dup
ENST00000485270.5:n.597+22_597+23dup
NM_000429.2:c.1085+22_1085+23dup	NP_000420.1:n.1085+22_1085+23dup
XM_005269842.3:c.1085+22_1085+23dup	XP_005269899.1:n.1085+22_1085+23dup
XM_005269843.3:c.962+22_962+23dup	XP_005269900.1:n.962+22_962+23dup
NM_000429.3:c.1085+22_1085+23dup MANE Select	NP_000420.1:n.1085+22_1085+23dup