Canonical Allele Identifier: CA2609912491
Gene: MAT1A HGNC NCBI

Linked Data

gnomAD v4: 10-80273505-C-CG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273510dup , CM000672.2:g.80273510dup GRCh38
NC_000010.10:g.82033266dup , CM000672.1:g.82033266dup GRCh37
NC_000010.9:g.82023246dup NCBI36
NG_008083.1:g.21173dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.*275dup MANE Select ENSP00000361287.3:n.*275dup
ENST00000372213.7:c.*275dup ENSP00000361287.3:n.*275dup
ENST00000480845.1:n.620+75dup
ENST00000485270.5:n.975dup
NM_000429.2:c.*275dup NP_000420.1:n.*275dup
XM_005269842.3:c.*275dup XP_005269899.1:n.*275dup
XM_005269843.3:c.*275dup XP_005269900.1:n.*275dup
NM_000429.3:c.*275dup MANE Select NP_000420.1:n.*275dup
Search 100 bp 5'
Search 100 bp 3'