Canonical Allele Identifier: CA1922573799
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs1841474263
gnomAD v4: 10-80275426-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275426G>T , CM000672.2:g.80275426G>T GRCh38
NC_000010.10:g.82035182G>T , CM000672.1:g.82035182G>T GRCh37
NC_000010.9:g.82025162G>T NCBI36
NG_008083.1:g.19253C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.769-227C>A MANE Select ENSP00000361287.3:n.769-227C>A
ENST00000372213.7:c.769-227C>A ENSP00000361287.3:n.769-227C>A
ENST00000485270.5:n.54C>A
NM_000429.2:c.769-227C>A NP_000420.1:n.769-227C>A
XM_005269842.3:c.769-227C>A XP_005269899.1:n.769-227C>A
XM_005269843.3:c.646-227C>A XP_005269900.1:n.646-227C>A
NM_000429.3:c.769-227C>A MANE Select NP_000420.1:n.769-227C>A
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