Canonical Allele Identifier: CA2609912388
Gene: MAT1A HGNC NCBI

Linked Data

gnomAD v4: 10-80273423-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273423A>T , CM000672.2:g.80273423A>T GRCh38
NC_000010.10:g.82033179A>T , CM000672.1:g.82033179A>T GRCh37
NC_000010.9:g.82023159A>T NCBI36
NG_008083.1:g.21256T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.*358T>A MANE Select ENSP00000361287.3:n.*358T>A
ENST00000372213.7:c.*358T>A ENSP00000361287.3:n.*358T>A
ENST00000480845.1:n.620+158T>A
ENST00000485270.5:n.1058T>A
NM_000429.2:c.*358T>A NP_000420.1:n.*358T>A
XM_005269842.3:c.*358T>A XP_005269899.1:n.*358T>A
XM_005269843.3:c.*358T>A XP_005269900.1:n.*358T>A
NM_000429.3:c.*358T>A MANE Select NP_000420.1:n.*358T>A
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