Canonical Allele Identifier: CA930390590
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs1841438713
gnomAD v3: 10-80273535-GC-G
gnomAD v4: 10-80273535-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273539del , CM000672.2:g.80273539del GRCh38
NC_000010.10:g.82033295del , CM000672.1:g.82033295del GRCh37
NC_000010.9:g.82023275del NCBI36
NG_008083.1:g.21143del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.*245del MANE Select ENSP00000361287.3:n.*245del
ENST00000372213.7:c.*245del ENSP00000361287.3:n.*245del
ENST00000480845.1:n.620+45del
ENST00000485270.5:n.945del
NM_000429.2:c.*245del NP_000420.1:n.*245del
XM_005269842.3:c.*245del XP_005269899.1:n.*245del
XM_005269843.3:c.*245del XP_005269900.1:n.*245del
NM_000429.3:c.*245del MANE Select NP_000420.1:n.*245del
Search 100 bp 5'
Search 100 bp 3'