Canonical Allele Identifier: CA930360472

Gene: MAT1A

Linked Data

• dbSNP Id: rs1841551834
• gnomAD v3: 10-80280489-A-AG
• gnomAD v4: 10-80280489-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80280494dup , CM000672.2:g.80280494dup	GRCh38
NC_000010.10:g.82040250dup , CM000672.1:g.82040250dup	GRCh37
NC_000010.9:g.82030230dup	NCBI36
NG_008083.1:g.14189dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.406-174dup MANE Select	ENSP00000361287.3:n.406-174dup
ENST00000372213.7:c.406-174dup	ENSP00000361287.3:n.406-174dup
ENST00000455001.1:c.217-174dup	ENSP00000414961.1:n.217-174dup
NM_000429.2:c.406-174dup	NP_000420.1:n.406-174dup
XM_005269842.3:c.406-174dup	XP_005269899.1:n.406-174dup
XM_005269843.3:c.283-174dup	XP_005269900.1:n.283-174dup
NM_000429.3:c.406-174dup MANE Select	NP_000420.1:n.406-174dup