Canonical Allele Identifier: CA2842879648
Gene: MAT1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80276339dup , CM000672.2:g.80276339dup GRCh38
NC_000010.10:g.82036095dup , CM000672.1:g.82036095dup GRCh37
NC_000010.9:g.82026075dup NCBI36
NG_008083.1:g.18342dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.768+39dup MANE Select ENSP00000361287.3:n.768+39dup
ENST00000372213.7:c.768+39dup ENSP00000361287.3:n.768+39dup
NM_000429.2:c.768+39dup NP_000420.1:n.768+39dup
XM_005269842.3:c.768+39dup XP_005269899.1:n.768+39dup
XM_005269843.3:c.645+39dup XP_005269900.1:n.645+39dup
NM_000429.3:c.768+39dup MANE Select NP_000420.1:n.768+39dup