Canonical Allele Identifier: CA2609912605
Gene: MAT1A HGNC NCBI

Linked Data

gnomAD v4: 10-80273620-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273620C>A , CM000672.2:g.80273620C>A GRCh38
NC_000010.10:g.82033376C>A , CM000672.1:g.82033376C>A GRCh37
NC_000010.9:g.82023356C>A NCBI36
NG_008083.1:g.21059G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.*161G>T MANE Select ENSP00000361287.3:n.*161G>T
ENST00000372213.7:c.*161G>T ENSP00000361287.3:n.*161G>T
ENST00000480845.1:n.581G>T
ENST00000485270.5:n.861G>T
NM_000429.2:c.*161G>T NP_000420.1:n.*161G>T
XM_005269842.3:c.*161G>T XP_005269899.1:n.*161G>T
XM_005269843.3:c.*161G>T XP_005269900.1:n.*161G>T
NM_000429.3:c.*161G>T MANE Select NP_000420.1:n.*161G>T
Search 100 bp 5'
Search 100 bp 3'